Phenotypes associated with this allele

• Allele Symbol: Vangl2^Lp
• Allele Name: loop tail
• Allele ID: MGI:1857642
• Summary: 68 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vangl2^Lp/Vangl2^Lp	B6.A(Cg)-Vangl2^Lp	MGI:5430225
hm2	Vangl2^Lp/Vangl2^Lp	C3H.A(Cg)-Vangl2^Lp	MGI:5661924
hm3	Vangl2^Lp/Vangl2^Lp	either: (involves: CBA * LPT/Le) or (involves: LPT/Le * SWR)	MGI:5661716
hm4	Vangl2^Lp/Vangl2^Lp	involves: A	MGI:3690096
hm5	Vangl2^Lp/Vangl2^Lp	involves: A * C3H/HeH	MGI:4939141
hm6	Vangl2^Lp/Vangl2^Lp	involves: C57BL/6 * CBA/Ca * LPT/LeJ	MGI:3778630
hm7	Vangl2^Lp/Vangl2^Lp	involves: CBA/Ca * LPT/Le	MGI:3529938
hm8	Vangl2^Lp/Vangl2^Lp	involves: LPT/LeJ	MGI:3655151
hm9	Vangl2^Lp/Vangl2^Lp	LPT/LeJ	MGI:3608689
ht10	Vangl2^Lp/Vangl2^+	C3H.A(Cg)-Vangl2^Lp	MGI:5661923
ht11	Vangl2^Lp/Vangl2^+	involves: 129 * LPT/LeJ	MGI:5661427
ht12	Vangl2^Lp/Vangl2^+	involves: A	MGI:3778628
ht13	Vangl2^Lp/Vangl2^+	involves: C3H/HeH * C57BL/6 * LPT/Le * NMRI * SWR	MGI:5661722
ht14	Vangl2^Lp/Vangl2^+	involves: C57BL/6 * CBA/Ca * LPT/LeJ	MGI:3778629
ht15	Vangl2^Lp/Vangl2^+	involves: C57BL/6 * LPT/LeJ	MGI:4360075
ht16	Vangl2^Lp/Vangl2^+	involves: CBA * LPT/Le	MGI:5661926
ht17	Vangl2^Lp/Vangl2^+	LPT/LeJ	MGI:3608686
ht18	Vangl2^Lp/Vangl2^Lp-m1Jus	involves: 101/Rl * C3H/Rl * C57BL/6J * LPT/LeJ	MGI:3708850
ht19	Vangl2^Lp/Vangl2^ska17	involves: 129S6/SvEvTac * A/J * C57BL/6J	MGI:4941949
ht20	Vangl2^Lp/Vangl2^tm1.2Mdea	involves: 129S/Sv * C57BL/6 * FVB/N * LPT/LeJ * SJL	MGI:5430222
cx21	Dact1^tm1.1Bnrc/Dact1^tm1.1Bnrc Vangl2^Lp/Vangl2^+	B6.Cg-Vangl2^Lp Dact1^tm1.1Bnrc	MGI:4360077
cx22	Dact1^tm1.1Bnrc/Dact1^tm1.1Bnrc Vangl2^Lp/Vangl2^Lp	B6.Cg-Vangl2^Lp Dact1^tm1.1Bnrc	MGI:4360078
cx23	Dact1^tm1.1Bnrc/Dact1^+ Vangl2^Lp/Vangl2^+	B6.Cg-Vangl2^Lp Dact1^tm1.1Bnrc	MGI:4360076
cx24	Celsr1^Crsh/Celsr1^+ Vangl2^Lp/Vangl2^+	C3H.Cg-Vangl2^Lp Celsr1^Crsh	MGI:5661740
cx25	Scrib^Crc/Scrib^+ Vangl2^Lp/Vangl2^+	C3H.Cg-Vangl2^Lp Scrib^Crc	MGI:5661815
cx26	Celsr1^Crsh/Celsr1^+ Scrib^Crc/Scrib^+ Vangl2^Lp/Vangl2^+	C3H.Cg-Vangl2^Lp Scrib^Crc Celsr1^Crsh	MGI:5661822
cx27	Celsr1^Crsh/Celsr1^+ Vangl2^Lp/Vangl2^+	involves: 101/H * BALB/c * C3H/HeH * CBA * LPT/Le	MGI:5661720
cx28	Sfrp1^tm1Aksh/Sfrp1^tm1Aksh Sfrp5^tm1Aksh/Sfrp5^tm1Aksh Vangl2^Lp/Vangl2^+	involves: 129 * A * C57BL/6 * LPT/LeJ	MGI:3795556
cx29	Sfrp1^tm1Aksh/Sfrp1^tm1Aksh Sfrp2^tm1Aksh/Sfrp2^tm1Aksh Sfrp5^tm1Aksh/Sfrp5^+ Vangl2^Lp/Vangl2^+	involves: 129 * A * C57BL/6 * LPT/LeJ	MGI:3795553
cx30	Sfrp1^tm1Aksh/Sfrp1^tm1Aksh Sfrp2^tm1Aksh/Sfrp2^+ Sfrp5^tm1Aksh/Sfrp5^tm1Aksh Vangl2^Lp/Vangl2^+	involves: 129 * A * C57BL/6 * LPT/LeJ	MGI:3795555
cx31	Fzd2^tm1.1Nat/Fzd2^+ Fzd7^tm1.1Nat/Fzd7^tm1.1Nat Vangl2^Lp/Vangl2^+	involves: 129 * C57BL/6 * LPT/LeJ	MGI:5444707
cx32	Fzd2^tm1.1Nat/Fzd2^+ Vangl2^Lp/Vangl2^+	involves: 129 * C57BL/6 * LPT/LeJ	MGI:5444719
cx33	Fzd7^tm1.1Nat/Fzd7^tm1.1Nat Vangl2^Lp/Vangl2^+	involves: 129 * C57BL/6 * LPT/LeJ	MGI:5444709
cx34	Ankrd6^tm1Pche/Ankrd6^tm1Pche Vangl2^Lp/Vangl2^+	involves: 129 * LPT/LeJ	MGI:5661425
cx35	Cfl1^tm1.2Wit/Cfl1^tm1.2Wit Vangl2^Lp/Vangl2^Lp	involves: 129 * LPT/LeJ	MGI:5473706
cx36	Vangl2^Lp/Vangl2^+ Ptk7^Gt(Betageo)1Matl/Ptk7^+	involves: 129P2/Ola * C57BL/6 * LPT/LeJ	MGI:3047813
cx37	Vangl1^Gt(XL802)Byg/Vangl1^Gt(XL802)Byg Vangl2^Lp/Vangl2^+	involves: 129P2/OlaHsd * A	MGI:4819599
cx38	Fat4^tm1.1Hmc/Fat4^tm1.1Hmc Vangl2^Lp/Vangl2^+	involves: 129P2/OlaHsd * A * FVB/N	MGI:3846578
cx39	Cthrc1^tm1Hssk/Cthrc1^tm1Hssk Vangl2^Lp/Vangl2^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3815076
cx40	Cthrc1^tm1Hssk/Cthrc1^+ Vangl2^Lp/Vangl2^+	involves: 129P2/OlaHsd * C57BL/6	MGI:3815075
cx41	Cthrc1^tm1Hssk/Cthrc1^+ Vangl2^Lp/Vangl2^+	involves: 129P2/OlaHsd * C57BL/6 * CD-1	MGI:3815079
cx42	Vangl1^Gt(XL802)Byg/Vangl1^+ Vangl2^Lp/Vangl2^+	involves: 129P2/OlaHsd * C57BL/6J * LPT/LeJ	MGI:3778824
cx43	Fzd1^tm1.1Nat/Fzd1^+ Fzd2^tm1.1Nat/Fzd2^+ Vangl2^Lp/Vangl2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * LPT/LeJ	MGI:4838144
cx44	Fzd2^tm1.1Nat/Fzd2^tm1.1Nat Vangl2^Lp/Vangl2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * LPT/LeJ	MGI:4838145
cx45	Fzd1^tm1.1Nat/Fzd1^+ Vangl2^Lp/Vangl2^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * LPT/LeJ	MGI:4838143
cx46	Cobl^C101/Cobl^C101 Vangl2^Lp/Vangl2^+	involves: 129S2/SvPas * LPT/LeJ	MGI:2677880
cx47	Cobl^C101/Cobl^C101 Vangl2^Lp/Vangl2^Lp	involves: 129S2/SvPas * LPT/LeJ	MGI:2677879
cx48	Vangl2^Lp/Vangl2^+ Mkks^Gt(OST367255)Lex/Mkks^+	involves: 129S5/SvEvBrd * C57BL/6J * LPT/LeJ	MGI:3608972
cx49	Dvl3^tm1Awb/Dvl3^tm1Awb Vangl2^Lp/Vangl2^+	involves: 129S6/SvEvTac * A * Black Swiss	MGI:3831926
cx50	Dvl3^tm1Awb/Dvl3^+ Vangl2^Lp/Vangl2^+	involves: 129S6/SvEvTac * A * Black Swiss	MGI:3831924
cx51	Sestd1^tm1.1Bnrc/Sestd1^tm1.1Bnrc Vangl2^Lp/Vangl2^+	involves: 129S6/SvEvTac * A * C57BL/6NCr	MGI:5520977
cx52	Sestd1^tm1.1Bnrc/Sestd1^+ Vangl2^Lp/Vangl2^+	involves: 129S6/SvEvTac * A * C57BL/6NCr	MGI:5520978
cx53	Dvl2^tm1Awb/Dvl2^tm1Awb Tg(Dvl2/EGFP)2Awb/? Vangl2^Lp/Vangl2^+	involves: 129S6/SvEvTac * LPT/LeJ	MGI:3715990
cx54	Dvl2^tm1Awb/Dvl2^tm1Awb Vangl2^Lp/Vangl2^+	involves: 129S6/SvEvTac * LPT/LeJ	MGI:3608687
cx55	Dvl1^tm1Awb/Dvl1^+ Dvl2^tm1Awb/Dvl2^tm1Awb Vangl2^Lp/Vangl2^+	involves: 129S6/SvEvTac * LPT/LeJ	MGI:3715984
cx56	Dvl1^tm1Awb/Dvl1^tm1Awb Dvl2^tm1Awb/Dvl2^tm1Awb Vangl2^Lp/Vangl2^Lp	involves: 129S6/SvEvTac * LPT/LeJ	MGI:3715987
cx57	Bbs1^Gt1Nk/Bbs1^+ Vangl2^Lp/Vangl2^+	involves: 129S7/SvEvBrd * LPT/LeJ	MGI:3608975
cx58	Ptk7^chz/Ptk7^+ Vangl2^Lp/Vangl2^+	involves: A * BALB/cAnN * C3H/HeH	MGI:4830332
cx59	Sec24b^Y613X/Sec24b^+ Vangl2^Lp/Vangl2^+	involves: A * C3H/He * C57BL/6	MGI:4440638
cx60	Rpl10a^em2Mbar/Rpl10a^+ Vangl2^Lp/Vangl2^+	involves: A * C57BL/6	MGI:7385102
cx61	Usp39^em1Imat/Usp39^+ Vangl2^Lp/Vangl2^Lp	involves: A * CD-1	MGI:7287423
cx62	Grhl3^ct/? Vangl2^Lp/Vangl2^+	involves: A * GFF	MGI:3794074
cx63	Lrp6^skax26/Lrp6^+ Vangl2^Lp/Vangl2^+	involves: A/J * 129S6/SvEvTac * C57BL/6 * C57BL/6J	MGI:5571494
cx64	Scrib^crn2/Scrib^+ Vangl2^Lp/Vangl2^+	involves: A/J * FVB/N	MGI:5056406
cx65	Scrib^Crc/Scrib^+ Vangl2^+/Vangl2^Lp	involves: BALB/c * C57BL/6 * CBA/Ca * LPT/LeJ * NMRI * SWR	MGI:3797053
cx66	Prickle1^tm1Nue/Prickle1^+ Vangl2^Lp/Vangl2^+	involves: C57BL/6J * CBA * LPT/LeJ	MGI:4356109
cx67	Cfl1^c5/Cfl1^c5 Vangl2^Lp/Vangl2^Lp	involves: C57BL/6J * LPT/LeJ	MGI:5473703
cx68	Vangl2^Lp/Vangl2^Lp Tg(Dvl2/EGFP)2Awb/?	involves: LPT/LeJ	MGI:3608681

Genotype
MGI:5430225

hm1

• Allelic Composition: Vangl2^Lp/Vangl2^Lp
• Genetic Background: B6.A(Cg)-Vangl2^Lp

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

reproductive system

vagina atresia ( J:185311 )

♀ • imperforated vagina in some mice

male infertility ( J:185311 )

♂

Genotype
MGI:5661924

hm2

• Allelic Composition: Vangl2^Lp/Vangl2^Lp
• Genetic Background: C3H.A(Cg)-Vangl2^Lp

embryo

open neural tube ( J:216413 )

• failure of neural tube closure 1 between the 5- and 8-somite stages

nervous system

open neural tube ( J:216413 )

• failure of neural tube closure 1 between the 5- and 8-somite stages

Genotype
MGI:5661716

hm3

• Allelic Composition: Vangl2^Lp/Vangl2^Lp
• Genetic Background: either: (involves: CBA * LPT/Le) or (involves: LPT/Le * SWR)

embryo

craniorachischisis ( J:216413 )

• fully penetrant

nervous system

craniorachischisis ( J:216413 )

• fully penetrant

Genotype
MGI:3690096

hm4

• Allelic Composition: Vangl2^Lp/Vangl2^Lp
• Genetic Background: involves: A

mortality/aging

perinatal lethality, complete penetrance ( J:13059 )

• while alive in the last few days of gestation, homozygotes do not survive birth

hearing/vestibular/ear

abnormal ear development ( J:133114 )

• at E15 all elements are present but appear somewhat flattened

abnormal otic pit morphology ( J:133113 )

• at E8.5 the otic pit is ill-defined and somewhat misshapen

• at E9.0 the otic pit is poorly defined, tends to have a deeper slit-like portion, and the cell are flattened, less densely arranged and have microvilli that are disorganized and distorted

• at E9.5 the otic pit lacks the oval shape seen in control littermates, ventrally the border tends to be flattened and less defined, and the epidermal cells tend to be more irregular in shape with flattened surfaces

abnormal inner ear morphology ( J:114748 )

• abnormalities are similar to those in Pax3^Sp homozygotes but with increased severity

abnormal cochlear inner hair cell morphology ( J:162640 )

• inner hair cells are misoriented compared to in wild-type mice

abnormal cochlear outer hair cell morphology ( J:162640 )

• outer hair cells are misoriented compared to in wild-type mice

abnormal semicircular canal morphology ( J:114748 )

• formation is partially or completely suppressed

dilated endolymphatic sac ( J:114748 )

• grossly enlarged

cardiovascular system

hemorrhage ( J:12992 , J:13059 , J:133114 )

• at E12.5 a hemorrhagic area is present in the flap of metencephalon (J:12992)

• hemorrhage in the flap of metencephalon is also seen in some (3 of 12) embryos at E10.5 - E11.5 (J:12992)

• in the last few days before birth the neural tracts are generally fractured across the lumbar region with considerable hemorrhage (J:13059)

• into the amniotic cavity in some embryos (J:133114)

embryo

abnormal embryo turning ( J:12992 )

• abnormal concave flexure of the back suggests that embryos do not complete rotation at E14.5 - E19.5

• Background Sensitivity: in a study looking at 6 inbred lines, impairment of rotation appears to be more severe in one line (8) than in other lines (16, 44, 55,66, 71)

decreased embryo size ( J:12992 , J:13059 , J:133114 )

• markedly smaller at E14.5 - E19.5 (J:12992)

• reduction in size is not proportional in all parts of the body with the trunk seeming relatively short and the nervous system relatively large for the body (J:12992)

• slightly smaller than wild-type or heterozygous littermates (J:13059)

• in later stages (J:133114)

abnormal embryonic tissue morphology ( J:12992 )

• crooks in the back are frequently seen in embryos at E14.5 - E19.5

abnormal neural tube morphology ( J:12992 )

• at E10.5 - E12.5, cell density in portions of the mantle layer of the hindbrain and cord appears to be reduced

craniorachischisis ( J:5550 , J:12992 , J:13059 )

• extends from the midbrain to varying levels of the tail (J:5550)

• at E14.5 - E19.5, neural tissue from the posterior border of the metencephalon back is a flat plate with a deep median groove (J:12992)

• in some embryos flaps of more posterior tissue overlie the diencephalon and sometimes the cerebral hemispheres (J:12992)

• at E10 the neural tissue fails to form a tube and is instead a herniated cranial mass with two broad tracts separated by a narrow groove down the back (J:13059)

• in the last few days before birth the neural tracts are generally fractured across the lumbar region (J:13059)

abnormal notochord morphology ( J:12992 )

• at E9.5 the notochord is shorter with an increase in the diameter and extent of the posterior thickened portion compared to control littermates

abnormal primitive streak morphology ( J:12992 )

• at E9 - E9.5, the primitive streak is thicker and longer compared to age-matched control littermates

abnormal somite shape ( J:12992 )

• at E9.5 posterior somites are often very small and/or irregular in shape

abnormal somite size ( J:12992 )

• at E9.5 posterior somites are often very small and/or irregular in shape

fused somites ( J:12147 )

• at E10 - 11, apparent fusion of some somites is seen associated with torsion of the body

short umbilical cord ( J:12992 )

• at E19 - E20, average cord length is decreased compared to wild-type and heterozygous littermates

skeleton

abnormal sternum morphology ( J:12147 )

• at E13 - 14, the separation between the right and left sternal rudiements is increased and the rudiments are less dense compared to control littermates

• at E16 the omosterna is less well developed

• in newborns the sternum is a single solid asymmetrical bone with variable numbers of lateral extensions and without normal segmentation

• lateral extensions are usually tipped with cartilage and extend towards the tips of the ribs

abnormal sternebra morphology ( J:12147 )

• absence of sternebra formation at E16

• at E17 only rarely is any separation into sternebrae detected

• in some newborns cases partial segmentation of the sternum is seen but the sternebrae are abnormal in size, shape and number

abnormal sternocostal joint morphology ( J:12147 )

• at E13 - 14, ribs fail to contact or just barely contact the mesenchymal sternal bands compared to controls where the ribs appear to be embedded in the sternal bands

• at E16 connection between the ribs and sternal cartilages is absent instead distorted sternal rudiments extend towards the ribs

• at E17 the rib tips are more widely separated from the sternum than in control littermates

abnormal xiphoid process morphology ( J:12147 )

• at E16 the xiphoid process appears as a mesenchymal condensation and is not chondrified

• the cartilaginous bifurcated section is larger than in newborn wild-type littermates

abnormal costovertebral joint morphology ( J:12147 )

• vertebral parapophyses fail to form and no good articulation between veterbrae and ribs develops

abnormal rib morphology ( J:12147 )

• at E17 ribs are irregular in shape, asymmetrical and frequently bifurcated

abnormal rib development ( J:12147 )

• ossification is somewhat delayed in some embryos and development in all embryos is irregular

• ribs are less likely to show the normal size taper pattern

decreased rib number ( J:12147 )

• otal number of ribs on either side tends to be decreased with the number of ribs per side frequently different and correlated to the direction of torsion of the body (i.e. animals with a right twist have fewer right ribs)

rib bifurcation ( J:12147 )

• bifurcation of about 1/3 of the length of the rib is frequently detected at E17

rib fusion ( J:12147 )

• detectable from the earliest appearance of the ribs (around E12) and correlated with bending or torsion of the body

abnormal vertebrae morphology ( J:12147 )

• extremely misshapen

abnormal vertebral epiphyseal plate morphology ( J:12147 )

• ossification centers are usually later to appear and more irregular in size and shape

abnormal vertebral arch morphology ( J:12147 )

• do not form normally

• parapophyses fail to form

abnormal vertebral arch development ( J:133114 )

• neural arches fail to form normally around the open, flat neural tube and are seen to puncture the flattened neural folds

abnormal vertebral body morphology ( J:12147 )

• centra are abnormal in size, shape and position and frequently fused

vertebral fusion ( J:12147 )

• centra are frequently fused

fusion of vertebral arches ( J:12147 )

• frequently fuse to form longitudinal bars of variable length and shape

abnormal sternum ossification ( J:12147 )

• the number and size of ossification centers at E17 is normal but the centers are usually asymmetrical and irregular in shape and sometimes fused

nervous system

abnormal neural tube morphology ( J:12992 )

• at E10.5 - E12.5, cell density in portions of the mantle layer of the hindbrain and cord appears to be reduced

craniorachischisis ( J:5550 , J:12992 , J:13059 )

• extends from the midbrain to varying levels of the tail (J:5550)

• at E14.5 - E19.5, neural tissue from the posterior border of the metencephalon back is a flat plate with a deep median groove (J:12992)

• in some embryos flaps of more posterior tissue overlie the diencephalon and sometimes the cerebral hemispheres (J:12992)

• at E10 the neural tissue fails to form a tube and is instead a herniated cranial mass with two broad tracts separated by a narrow groove down the back (J:13059)

• in the last few days before birth the neural tracts are generally fractured across the lumbar region (J:13059)

abnormal cochlear inner hair cell morphology ( J:162640 )

• inner hair cells are misoriented compared to in wild-type mice

abnormal cochlear outer hair cell morphology ( J:162640 )

• outer hair cells are misoriented compared to in wild-type mice

abnormal brain morphology ( J:133114 )

• in some embryos a large flap-like extension of neural tissue overhangs the face

abnormal brain development ( J:12992 , J:133114 )

• at E9.5 the neural anlage in the region of the floor is shorter compared to control littermates (J:12992)

• the number of mitotic figures is increased in the brain but not in the spinal cord (J:133114)

abnormal midbrain development ( J:5550 )

• at E10 and E11 in ventricular cells of the tectum, the mitotic index is increased, generation time is increased, and M, G1 and S (on E11 only) phases of the cell cycle are prolonged

abnormal midbrain morphology ( J:5544 , J:133114 )

• at E10 mesencephalon cells lack microvilli but retain a fairly normal cilium (J:5544)

• at E12 - E14, flattened cells with apparently everted edges and deep depressions spanning multiple cells are present in lateral regions (J:5544)

• at E10, mesencephalic tissue protrudes creating a median dorsal extension (J:133114)

abnormal forebrain morphology ( J:133114 )

• at E10 the lumen is collapsed

abnormal cerebral hemisphere morphology ( J:12992 )

• in some cases the cerebral hemispheres are collapsed at E14.5 - E19.5

abnormal hindbrain morphology ( J:5544 )

• at E10, the ventral midline groove is shallower and cells of the groove are less densely covered with microvilli and bulbous processes

• at E11 the cells are flattened, lack microvilli and have less prominent bulbous processes

• at E12 - E14, flattened cells with apparently everted edges and deep depressions spanning multiple cells are present in lateral regions

abnormal metencephalon morphology ( J:12992 )

• at E10.5, the roof of the metencephalon appears stretched and some cells have pulled apart

digestive/alimentary system

abnormal digestive system development ( J:12992 )

• at E9.5 the gut is shorter compared to control littermates

growth/size/body

decreased embryo size ( J:12992 , J:13059 , J:133114 )

• markedly smaller at E14.5 - E19.5 (J:12992)

• reduction in size is not proportional in all parts of the body with the trunk seeming relatively short and the nervous system relatively large for the body (J:12992)

• slightly smaller than wild-type or heterozygous littermates (J:13059)

• in later stages (J:133114)

abnormal body wall morphology ( J:12992 )

• Background Sensitivity: at E14.5 - E19.5, hernias in which the liver and intestines are found outside the body wall are seen in one line (8) while 5 other inbred lines of this allele lack hernias (16, 44, 55,66, 71)

omphalocele ( J:13059 )

• in a fair number of embryos small hernias are detected

abnormal ventral body wall morphology ( J:13059 )

• in 2 embryos complete failure of ventral closure is seen with the heart, lungs, liver, and intestines exposed

craniofacial

abnormal otic pit morphology ( J:133113 )

• at E8.5 the otic pit is ill-defined and somewhat misshapen

• at E9.0 the otic pit is poorly defined, tends to have a deeper slit-like portion, and the cell are flattened, less densely arranged and have microvilli that are disorganized and distorted

• at E9.5 the otic pit lacks the oval shape seen in control littermates, ventrally the border tends to be flattened and less defined, and the epidermal cells tend to be more irregular in shape with flattened surfaces

Genotype
MGI:4939141

hm5

• Allelic Composition: Vangl2^Lp/Vangl2^Lp
• Genetic Background: involves: A * C3H/HeH

respiratory system

abnormal lung morphology ( J:159690 )

• at E14.5 and E18.5, mutant lungs show cytokeletal defects and disordered epithelial airways with no apparent disruption of adherens junctions

• however, apical-basal polarity remains intact

abnormal branching involved in lung morphogenesis ( J:159690 )

• at E14.5, a significant reduction in the number of epithelial branches is observed

• in explant cultures, mutant E11.5 lung endoderm denuded of mesenchyme responds to a chemoattractant FGF10 stimulus in terms of growth but is unable to undergo branching

• however, no significant changes in epithelial cell differentiation are observed in vivo at E18.5

• also, no significant changes in proliferation or apoptosis are noted at E11.5 or E14.5

abnormal lung saccule morphology ( J:159690 )

• at E18.5, mutant lungs show atypical saccular structure with no evidence of septation

thick lung-associated mesenchyme ( J:159690 )

• at E18.5, mutant lungs display a thickened interstitial mesenchyme

abnormal lung epithelium morphology ( J:159690 )

• at E14.5, the mutant lung epithelium is improperly aligned and shows a multilayered and/or disorganized morphology, unlike the single layer of uniformly aligned columnar epithelium seen in wild-type lungs

• at E14.5, mutant lung epithelial cells are highly disorganized and randomly orientated with either small or no lumina, and not readily distinguishable from surrounding mesenchyme by DAPI labeling

• Vangl2^Lp airways appear less severely affected than Celsr1^Crsh airways

abnormal lung lobe morphology ( J:159690 )

• at E18.5, mutant lung lobes are visibly misshapen

small lung lobe ( J:159690 )

• at E18.5, mutant lung lobes are smaller than wild-type lobes

small lung ( J:159690 )

• at E18.5, mutant lungs are smaller than wild-type, likely due to the reduced width and number of airway lumina and increased compaction of the lung tissue

pulmonary hypoplasia ( J:159690 )

• at E18.5, mutant lungs are hypoplastic

abnormal respiratory conducting tube morphology ( J:159690 )

• at E14.5, most airway lumina are narrow or absent

• at E18.5, the number and width of mutant airways is severely reduced while the luminal space often contains cells

impaired branching involved in terminal bronchiole morphogenesis ( J:159690 )

• after 48 hrs in ex vivo culture, mutant E11.5 lungs are smaller with significantly fewer and larger terminal buds than wild-type lungs

dilated terminal bronchiole tube ( J:159690 )

• after 48 hrs in ex vivo culture, mutant E11.5 lungs display significantly enlarged terminal buds relative to wild-type lungs

embryo

craniorachischisis ( J:159690 )

nervous system

craniorachischisis ( J:159690 )

Genotype
MGI:3778630

hm6

• Allelic Composition: Vangl2^Lp/Vangl2^Lp
• Genetic Background: involves: C57BL/6 * CBA/Ca * LPT/LeJ

nervous system

craniorachischisis ( J:20323 )

• at E9.5 - E10.5, neural tube is open from the hindbrain to the caudal extremity

• however, initiation of closure of the cranial neural tube at the midbrain/forebrain boundary is similar to wild-type

embryo

craniorachischisis ( J:20323 )

• at E9.5 - E10.5, neural tube is open from the hindbrain to the caudal extremity

• however, initiation of closure of the cranial neural tube at the midbrain/forebrain boundary is similar to wild-type

Genotype
MGI:3529938

hm7

• Allelic Composition: Vangl2^Lp/Vangl2^Lp
• Genetic Background: involves: CBA/Ca * LPT/Le

nervous system

abnormal neural plate morphology ( J:47700 )

• marked broadening and flattening of the neural plate ventral midline at E8.5

• fail to develop a sharp midline bending at E8.5

abnormal embryonic neuroepithelium morphology ( J:47700 )

open neural tube ( J:47700 )

• failure to initiate neural tube closure at the cervical/hindbrain boundry

• neural tube is open throughout the hindbrain and spinal region

craniorachischisis ( J:47700 )

embryo

embryo phenotype ( J:47700 )

N • more anterior neural fold development is more like controls

abnormal neural plate morphology ( J:47700 )

• marked broadening and flattening of the neural plate ventral midline at E8.5

• fail to develop a sharp midline bending at E8.5

abnormal embryonic neuroepithelium morphology ( J:47700 )

open neural tube ( J:47700 )

• failure to initiate neural tube closure at the cervical/hindbrain boundry

• neural tube is open throughout the hindbrain and spinal region

craniorachischisis ( J:47700 )

abnormal notochord morphology ( J:47700 )

• enlarged

• loosely organized

abnormal somite development ( J:47700 )

• poorly condensed

abnormal somite shape ( J:47700 )

• irregularly shaped

skeleton

abnormal sternum morphology ( J:47700 )

• sternal defects

rib fusion ( J:47700 )

• multiple rib fusions

abnormal vertebral arch development ( J:47700 )

• neural arches are unfused dorsally

• unfused arches are splayed apart

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neural tube defect		DOID:0080074	OMIM:301410 OMIM:601634	J:47700

Genotype
MGI:3655151

hm8

• Allelic Composition: Vangl2^Lp/Vangl2^Lp
• Genetic Background: involves: LPT/LeJ

embryo

open neural tube ( J:194042 )

• at E9.5

craniorachischisis ( J:194042 )

• at E9.5

abnormal notochord morphology ( J:194042 )

• midline is shorter and wider at the 1 to 4 somite stage

• change in size is not due to changes in cell shape

abnormal somite size ( J:194042 )

• significantly shorter and wider

nervous system

open neural tube ( J:194042 )

• at E9.5

craniorachischisis ( J:194042 )

• at E9.5

Genotype
MGI:3608689

hm9

• Allelic Composition: Vangl2^Lp/Vangl2^Lp
• Genetic Background: LPT/LeJ

Vangl1^Gt(XL802)Byg/Vangl1⁺ Vangl2^Lp/Vangl2⁺ and Vangl2^Lp/Vangl2^Lp embryos exhibit aberrant right subclavian artery

hearing/vestibular/ear

abnormal cochlea morphology ( J:132697 )

• reduced in size at E18.5

abnormal organ of Corti morphology ( J:100861 )

• shorter, wider cochlear ducts

• inner ears from E15.5 cultured for 6 days fail to grow in length, have misoriented stereocilia, and widened apex

increased cochlear hair cell number ( J:100861 )

• increased rows of hair cells within the third of the cochlea nearest the apex

abnormal orientation of inner hair cell stereociliary bundles ( J:132697 )

• 70% of inner hair cell bundles are misoriented

abnormal orientation of outer hair cell stereociliary bundles ( J:100861 , J:132697 )

• misorientation of stereociliary bundles at E18.5, more severe in the medial region than the base with approximately 95% misoriented in the two outer rows of outer hair cells (J:100861)

• a significant proportion of bundles in all 3 layers are misoriented (J:132697)

• vertices are randomly oriented with rotation angles of 40 - 180 degrees (J:132697)

cardiovascular system

abnormal aortic arch morphology ( J:74156 )

• narrowing or interruption of the left aortic arch in about 40% of mice

aberrant origin of the right subclavian artery ( J:132697 )

• at E14.5, the right subclavian artery is positioned dorsal to the esophagus

right aortic arch ( J:74156 )

• in 2 of 6 at E13.5 with retroesophageal left subclavian artery

vascular ring ( J:74156 )

double aortic arch ( J:74156 )

• in 4 of 6 mice at E13.5 and in 3 of 3 at E18.5

abnormal left subclavian artery morphology ( J:74156 )

• at E13.5 2 of 6 show right aortic-sided arch with retroesophageal left subclavian artery

common truncal valve ( J:74156 )

• in some cases (3 of 18) the aortic and pulmonary valves appear as a common valve

abnormal heart development ( J:106431 )

• at E12.5, myocardial cells do not appear to extend as far into the septum as in control littermates and myocardial cells fail to extend lamellipodia or filopodia into the endocardial cushion tissue

• at E13.5, fewer cardiomyocytes extend into the septum, the boundary of the myocardial wall and mesenchymal septum does not follow a smooth curve, and the non-muscularized region of the proximal outlet septum appears larger

• at E15.5, the outlet septum is malpositioned and not muscularized and the aorta maintains contact with the right ventricle

abnormal heart looping ( J:74156 )

• at E8.5, E9.5, and E10.5, direction of looping is normal but the ventricular loop is rotated clockwise and displaced to the right

• heart appears displaced in relation to the head but is oriented normally in relation to the forelimb buds

double outlet right ventricle ( J:74156 )

• seen in all homozygotes

ventricular septal defect ( J:74156 )

• ventricular septal defect

embryo

embryo phenotype ( J:74156 )

N • despite abnormalities in aortic arch patterning, neural crest cell migration appears normal, the cranial and dorsal root ganglia are normal in size and position, and no defects in left-right patterning are detected

abnormal embryo development ( J:108512 )

• at headfold stage, the embryo length to width ratio is reduced similar to that observed in Dvl1^tm1Awb Dvl2^tm1Awb homozygotes

incomplete embryo turning ( J:74156 )

• incomplete axial rotation resulting in misalignment of the head and trunk

craniorachischisis ( J:132697 )

abnormal notochord morphology ( J:108512 )

• the notochord is broader

nervous system

nervous system phenotype ( J:74156 )

N • despite abnormalities in aortic arch patterning, neural crest cell migration appears normal and the cranial and dorsal root ganglia are normal in size and position

craniorachischisis ( J:132697 )

increased cochlear hair cell number ( J:100861 )

• increased rows of hair cells within the third of the cochlea nearest the apex

abnormal orientation of inner hair cell stereociliary bundles ( J:132697 )

• 70% of inner hair cell bundles are misoriented

abnormal orientation of outer hair cell stereociliary bundles ( J:100861 , J:132697 )

• misorientation of stereociliary bundles at E18.5, more severe in the medial region than the base with approximately 95% misoriented in the two outer rows of outer hair cells (J:100861)

• a significant proportion of bundles in all 3 layers are misoriented (J:132697)

• vertices are randomly oriented with rotation angles of 40 - 180 degrees (J:132697)

abnormal cervical flexure morphology ( J:74156 )

• reduced cervical flexure

Genotype
MGI:5661923

ht10

• Allelic Composition: Vangl2^Lp/Vangl2⁺
• Genetic Background: C3H.A(Cg)-Vangl2^Lp

embryo

delayed neural tube closure ( J:216413 )

• Background Sensitivity: neural tube closure delay is less severe (1.2-somites delay) on the C3H/HeH background than on the mixed CBA and LPT/Le background (1.9-somites delay)

limbs/digits/tail

curly tail ( J:216413 )

• Background Sensitivity: looped tail phenotype becomes less penetrant on the C3H/HeH background, seen in 55% of mutants

nervous system

delayed neural tube closure ( J:216413 )

• Background Sensitivity: neural tube closure delay is less severe (1.2-somites delay) on the C3H/HeH background than on the mixed CBA and LPT/Le background (1.9-somites delay)

Genotype
MGI:5661427

ht11

• Allelic Composition: Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129 * LPT/LeJ

reproductive system

vagina atresia ( J:216288 )

♀ • seen in less than 10% of females

female infertility ( J:216288 )

♀ • seen in less than 10% of females

Genotype
MGI:3778628

ht12

• Allelic Composition: Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: A

behavior/neurological

behavior/neurological phenotype ( J:5888 )

N • Background Sensitivity: head wobble seen in mice on an LPT/LeJ background is lost in mice descended from KF Stein's albino stock

abnormal motor capabilities/coordination/movement ( J:133042 )

• reduction if the frequency of forepaw vibrations

impaired balance ( J:133042 )

• mice will often fall on their sides when running

abnormal head movements ( J:13059 , J:133042 )

• mice display head rocking or wobbling that in some cases tends to choreic activity (J:13059)

• choreatic movement of the head (J:133042)

head shaking ( J:5061 )

• all mice with a marked degree of head shaking also show brain abnormalities

abnormal tail movements ( J:133042 )

• absence of tail rattling behavior

abnormal locomotor behavior ( J:133042 )

• decrease in the frequency of wire mesh climbing

decreased vertical activity ( J:133042 )

• decreased frequency of rearing which involves shaking movements of the forepart of the body

nervous system

nervous system phenotype ( J:5888 )

N • Background Sensitivity: no ventricle abnormalities are detected in mice descended from KF Stein's albino stock unlike mice on an LPT/LeJ background

spina bifida ( J:158452 )

• in 5% of mice

craniorachischisis ( J:162640 )

abnormal orientation of cochlear hair cell stereociliary bundles ( J:142392 , J:214064 )

• stereociliary bundles in apical regions are rotated compared to in wild-type mice (J:142392)

abnormal brain ventricle morphology ( J:5061 )

• large ventriculus impar

• however, the third and fourth ventricles appear unaffected

enlarged lateral ventricles ( J:5061 )

• seen in 7 of 9 mice examined although sometimes only unilaterally

abnormal corpus callosum morphology ( J:5061 )

• appears to be reduced in some places

abnormal dorsal striatum morphology ( J:5061 )

• slightly deformed at the medial margin and in the septal area with the nucleus lateralis septi clearly malformed

abnormal hippocampus morphology ( J:5061 )

• somewhat deformed and caudally displaced

limbs/digits/tail

short tail ( J:162640 )

curly tail ( J:13059 , J:162640 , J:201925 )

• partial penetrance of loops in the tail (J:13059)

• variable degree of contortion of the tail ranging from extreme pretzel-like twists to minor angular crooks or curves (J:13059)

• in 21 of 28 mice (J:201925)

reproductive system

vagina atresia ( J:13059 , J:162640 )

♀ • about one third of females lack a vaginal opening (J:13059)

♀ (J:162640)

female infertility ( J:162640 )

♀

skeleton

abnormal xiphoid process morphology ( J:12147 )

• frequent bifurcation of the xiphoid process, extending beyond the cartilaginous tip, is seen

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:13059 )

N • despite abnormal head movements, mice are not deaf

abnormal orientation of cochlear hair cell stereociliary bundles ( J:142392 , J:214064 )

• stereociliary bundles in apical regions are rotated compared to in wild-type mice (J:142392)

embryo

spina bifida ( J:158452 )

• in 5% of mice

craniorachischisis ( J:162640 )

Genotype
MGI:5661722

ht13

• Allelic Composition: Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: C3H/HeH * C57BL/6 * LPT/Le * NMRI * SWR

embryo

craniorachischisis ( J:216413 )

• 54% of embryos develop craniorachischisis

nervous system

craniorachischisis ( J:216413 )

• 54% of embryos develop craniorachischisis

Genotype
MGI:3778629

ht14

• Allelic Composition: Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: C57BL/6 * CBA/Ca * LPT/LeJ

nervous system

abnormal neural tube closure ( J:20323 )

• when cultured starting at E8.5 more embryos with open neural tubes are detected suggesting an increase in susceptibility to failure of neural tube closure in stressful conditions

• however, initiation of closure of the cranial neural tube at the midbrain/forebrain boundary is similar to wild-type

delayed neural tube closure ( J:20323 )

• explants of E8.5 embryos show a delay in closure of about 4 - 6 hrs

• explants of E9.5 and E10.5 embryos show a delay of posterior neuropore closure

embryo

abnormal neural tube closure ( J:20323 )

• when cultured starting at E8.5 more embryos with open neural tubes are detected suggesting an increase in susceptibility to failure of neural tube closure in stressful conditions

• however, initiation of closure of the cranial neural tube at the midbrain/forebrain boundary is similar to wild-type

delayed neural tube closure ( J:20323 )

• explants of E8.5 embryos show a delay in closure of about 4 - 6 hrs

• explants of E9.5 and E10.5 embryos show a delay of posterior neuropore closure

Genotype
MGI:4360075

ht15

• Allelic Composition: Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: C57BL/6 * LPT/LeJ

embryo

abnormal embryonic tissue morphology ( J:152701 )

• at the 6 to 7 somite stage the posterior length to width ratio is significantly decreased compared to controls

• however, the whole embryo length to width ratio is not significantly different from controls

limbs/digits/tail

curly tail ( J:152701 )

Genotype
MGI:5661926

ht16

• Allelic Composition: Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: CBA * LPT/Le

embryo

delayed neural tube closure ( J:216413 )

• Background Sensitivity: neural tube closure delay is more severe on this background (1.9-somites delay) than on the C3H/HeH background (1.2-somites delay)

limbs/digits/tail

curly tail ( J:216413 )

• Background Sensitivity: looped tail phenotype is more penetrant, seen in 90% of mutants, than on the C3H/HeH background in which 55% of mutants have a looped

nervous system

delayed neural tube closure ( J:216413 )

• Background Sensitivity: neural tube closure delay is more severe on this background (1.9-somites delay) than on the C3H/HeH background (1.2-somites delay)

Genotype
MGI:3608686

ht17

• Allelic Composition: Vangl2^Lp/Vangl2⁺
• Genetic Background: LPT/LeJ

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:100861 )

N • normal stereocilia orientation at E18.5 and in inner ears cultured from E14.5 for 6 days

limbs/digits/tail

kinked tail ( J:108512 )

• tails are kinked or looped

behavior/neurological

abnormal head movements ( J:5888 )

• Background Sensitivity: unlike mice descended from KF Stein's albino stock, head wobble is seen

nervous system

delayed neural tube closure ( J:108512 )

• neural tube remains open at 8- to 9-somite stage

abnormal brain ventricular system morphology ( J:5888 )

• distortions in the septal area

enlarged third ventricle ( J:5888 )

• occasionally slightly enlarged

abnormal lateral ventricle morphology ( J:5888 )

• usually bilaterally enlarged and distorted although the abnormality may be unilateral

enlarged lateral ventricles ( J:5888 )

abnormal hippocampus morphology ( J:5888 )

• distortions to the overall shape

embryo

delayed neural tube closure ( J:108512 )

• neural tube remains open at 8- to 9-somite stage

Genotype
MGI:3708850

ht18

• Allelic Composition: Vangl2^Lp/Vangl2^Lp-m1Jus
• Genetic Background: involves: 101/Rl * C3H/Rl * C57BL/6J * LPT/LeJ

nervous system

open neural tube ( J:68823 )

craniorachischisis ( J:68823 )

embryo

open neural tube ( J:68823 )

craniorachischisis ( J:68823 )

Genotype
MGI:4941949

ht19

• Allelic Composition: Vangl2^Lp/Vangl2^ska17
• Genetic Background: involves: 129S6/SvEvTac * A/J * C57BL/6J

nervous system

spina bifida ( J:169664 )

• in 2 of 13 embryos

craniorachischisis ( J:169664 )

• in 10 of 13 embryos

abnormal orientation of outer hair cell stereociliary bundles ( J:169664 )

• bundle orientation of OHC2 and OHC3 at the apical regions of the organ of Corti is severely affected

vision/eye

failure of eyelid fusion ( J:169664 )

• in 3 of 5 embryos with craniorachischisis

embryo

spina bifida ( J:169664 )

• in 2 of 13 embryos

craniorachischisis ( J:169664 )

• in 10 of 13 embryos

hearing/vestibular/ear

abnormal orientation of outer hair cell stereociliary bundles ( J:169664 )

• bundle orientation of OHC2 and OHC3 at the apical regions of the organ of Corti is severely affected

Genotype
MGI:5430222

ht20

• Allelic Composition: Vangl2^Lp/Vangl2^tm1.2Mdea
• Genetic Background: involves: 129S/Sv * C57BL/6 * FVB/N * LPT/LeJ * SJL

Vestibular hair cell planar polarity defects in Vangl2^tm1.2Mdea/Vangl2^tm1.2Mdea and Vangl2^tm1.2Mdea/Vangl2^Lp mice

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:185311 )

• more numerous and disorganized cells compared with Vangl2^tm1.2Mdea homozygotes

abnormal cochlear inner hair cell morphology ( J:185311 )

• reverse orientation

abnormal cochlear outer hair cell morphology ( J:185311 )

• abnormal orientation in the mid to last rows

increased cochlear outer hair cell number ( J:185311 )

• extra rows

abnormal vestibular hair cell morphology ( J:185311 )

• more numerous and disorganized cells in more fields compared with Vangl2^tm1.2Mdea homozygotes

nervous system

abnormal cochlear hair cell morphology ( J:185311 )

• more numerous and disorganized cells compared with Vangl2^tm1.2Mdea homozygotes

abnormal cochlear inner hair cell morphology ( J:185311 )

• reverse orientation

abnormal cochlear outer hair cell morphology ( J:185311 )

• abnormal orientation in the mid to last rows

increased cochlear outer hair cell number ( J:185311 )

• extra rows

abnormal vestibular hair cell morphology ( J:185311 )

• more numerous and disorganized cells in more fields compared with Vangl2^tm1.2Mdea homozygotes

Genotype
MGI:4360077

cx21

• Allelic Composition: Dact1^tm1.1Bnrc/Dact1^tm1.1Bnrc; Vangl2^Lp/Vangl2⁺
• Genetic Background: B6.Cg-Vangl2^Lp Dact1^tm1.1Bnrc

embryo

caudal body truncation ( J:152701 )

• penetrance is reduced compared to Dact1 single mutants

digestive/alimentary system

abnormal digestive system morphology ( J:152701 )

• penetrance is reduced compared to Dact1 single mutants

abnormal anus morphology ( J:152701 )

• penetrance is reduced compared to Dact1 single mutants

reproductive system

abnormal external female genitalia morphology ( J:152701 )

♀ • penetrance is reduced compared to Dact1 single mutants

abnormal external male genitalia morphology ( J:152701 )

♂ • penetrance is reduced compared to Dact1 single mutants

renal/urinary system

abnormal kidney morphology ( J:152701 )

• penetrance is reduced compared to Dact1 single mutants

abnormal urinary bladder morphology ( J:152701 )

• penetrance is reduced compared to Dact1 single mutants

limbs/digits/tail

curly tail ( J:152701 )

• penetrance of the loop tail phenotype is decreased to less than 20% compared to greater than 80% in Vangl2 single heterozygotes

Genotype
MGI:4360078

cx22

• Allelic Composition: Dact1^tm1.1Bnrc/Dact1^tm1.1Bnrc; Vangl2^Lp/Vangl2^Lp
• Genetic Background: B6.Cg-Vangl2^Lp Dact1^tm1.1Bnrc

nervous system

craniorachischisis ( J:152701 )

• similar to the phenotype in Vangl2 single homozygotes

embryo

craniorachischisis ( J:152701 )

• similar to the phenotype in Vangl2 single homozygotes

Genotype
MGI:4360076

cx23

• Allelic Composition: Dact1^tm1.1Bnrc/Dact1⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: B6.Cg-Vangl2^Lp Dact1^tm1.1Bnrc

limbs/digits/tail

curly tail ( J:152701 )

• penetrance of the loop tail phenotype is decreased to less than 65% compared to greater than 80% in Vangl2 single heterozygotes

Genotype
MGI:5661740

cx24

• Allelic Composition: Celsr1^Crsh/Celsr1⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: C3H.Cg-Vangl2^Lp Celsr1^Crsh

embryo

abnormal left-right axis patterning ( J:216413 )

• rightward skewing of the embryo, with shortening of the right-hand size compared with the left, suggesting a defect in embryo turning

craniorachischisis ( J:216413 )

• 100% of embryos exhibit craniorachischisis, occurring usually as an isolated defect (in 89% of mutants) but sometimes associated with an abdominal wall defect (in 11% of mutants)

growth/size/body

omphalocele ( J:216413 )

• abdominal wall defect in 11% of mutants, which is likely to be omphalocele/exomphalos

nervous system

craniorachischisis ( J:216413 )

• 100% of embryos exhibit craniorachischisis, occurring usually as an isolated defect (in 89% of mutants) but sometimes associated with an abdominal wall defect (in 11% of mutants)

vision/eye

abnormal eyelid morphology ( J:216413 )

• 3 of 5 mutants fail to close eyelids at E16.5, while others show partial eyelid closure

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neural tube defect		DOID:0080074	OMIM:301410 OMIM:601634	J:216413

Genotype
MGI:5661815

cx25

• Allelic Composition: Scrib^Crc/Scrib⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: C3H.Cg-Vangl2^Lp Scrib^Crc

embryo

abnormal developmental patterning ( J:216413 )

• skewed body axis in some mutants

craniorachischisis ( J:216413 )

• 81% of mutants exhibit craniorachischisis, most often isolated (in 50% of mutants) but sometimes associated with abdominal wall defect (in 31% of mutants) and a skewed body axis

growth/size/body

abnormal abdominal wall morphology ( J:216413 )

• 3% of mutants exhibit only an abdominal wall defect while 31% exhibit both abdominal wall defect and craniorachischisis

limbs/digits/tail

curly tail ( J:216413 )

• 6% of mutants exhibit a looped tail

mortality/aging

prenatal lethality, incomplete penetrance ( J:216413 )

• 13% of mutants are viable postnatally

nervous system

craniorachischisis ( J:216413 )

• 81% of mutants exhibit craniorachischisis, most often isolated (in 50% of mutants) but sometimes associated with abdominal wall defect (in 31% of mutants) and a skewed body axis

exencephaly ( J:216413 )

• 3% of mutants exhibit exencephaly

vision/eye

abnormal eyelid morphology ( J:216413 )

• all mutants exhibit failure of eyelid closure at E16.5; all these have craniorachischisis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neural tube defect		DOID:0080074	OMIM:301410 OMIM:601634	J:216413

Genotype
MGI:5661822

cx26

• Allelic Composition: Celsr1^Crsh/Celsr1⁺; Scrib^Crc/Scrib⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: C3H.Cg-Vangl2^Lp Scrib^Crc Celsr1^Crsh

embryo

craniorachischisis ( J:216413 )

• 2 of 3 mutants exhibit craniorachischisis

limbs/digits/tail

abnormal tail morphology ( J:216413 )

• 1 of 3 mice exhibits hindbrain exencephaly and a tail defect

nervous system

craniorachischisis ( J:216413 )

• 2 of 3 mutants exhibit craniorachischisis

exencephaly ( J:216413 )

• 1 of 3 mice exhibits hindbrain exencephaly and a tail defect

Genotype
MGI:5661720

cx27

• Allelic Composition: Celsr1^Crsh/Celsr1⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 101/H * BALB/c * C3H/HeH * CBA * LPT/Le

embryo

craniorachischisis ( J:216413 )

• 54% of embryos develop craniorachischisis

limbs/digits/tail

curly tail ( J:216413 )

• the mice that do not develop craniorachischisis exhibit a looped tail

nervous system

craniorachischisis ( J:216413 )

• 54% of embryos develop craniorachischisis

Genotype
MGI:3795556

cx28

• Allelic Composition: Sfrp1^tm1Aksh/Sfrp1^tm1Aksh; Sfrp5^tm1Aksh/Sfrp5^tm1Aksh; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129 * A * C57BL/6 * LPT/LeJ

nervous system

spina bifida ( J:135313 )

• 13% of mice exhibit spina bifida

embryo

spina bifida ( J:135313 )

• 13% of mice exhibit spina bifida

Genotype
MGI:3795553

cx29

• Allelic Composition: Sfrp1^tm1Aksh/Sfrp1^tm1Aksh; Sfrp2^tm1Aksh/Sfrp2^tm1Aksh; Sfrp5^tm1Aksh/Sfrp5⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129 * A * C57BL/6 * LPT/LeJ

embryo

abnormal rostral-caudal body axis extension ( J:135313 )

• mice exhibit an anterior-posterior elongation defect that is enhanced in the trunk relative to that observed in Sfrp1^tm1Aksh/Sfrp1^tm1Aksh Sfrp2^tm1Aksh/Sfrp2^tm1Aksh Sfrp5^tm1Aksh/Sfrp5⁺ mice

• at late head-fold stage, mice exhibit abnormal convergence and extension

open neural tube ( J:135313 )

craniorachischisis ( J:135313 )

abnormal somite development ( J:135313 )

nervous system

open neural tube ( J:135313 )

craniorachischisis ( J:135313 )

Genotype
MGI:3795555

cx30

• Allelic Composition: Sfrp1^tm1Aksh/Sfrp1^tm1Aksh; Sfrp2^tm1Aksh/Sfrp2⁺; Sfrp5^tm1Aksh/Sfrp5^tm1Aksh; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129 * A * C57BL/6 * LPT/LeJ

nervous system

spina bifida ( J:135313 )

• 62% of mice exhibit spina bifida

embryo

spina bifida ( J:135313 )

• 62% of mice exhibit spina bifida

Genotype
MGI:5444707

cx31

• Allelic Composition: Fzd2^tm1.1Nat/Fzd2⁺; Fzd7^tm1.1Nat/Fzd7^tm1.1Nat; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129 * C57BL/6 * LPT/LeJ

cardiovascular system

abnormal heart morphology ( J:189062 )

• 37% of embryos (n=18) display cardiac defects

ventricular septal defect ( J:189062 )

• most defects are VSDs

craniofacial

cleft palate ( J:189062 )

• in 53% of embryos (n=17)

digestive/alimentary system

cleft palate ( J:189062 )

• in 53% of embryos (n=17)

growth/size/body

cleft palate ( J:189062 )

• in 53% of embryos (n=17)

Genotype
MGI:5444719

cx32

• Allelic Composition: Fzd2^tm1.1Nat/Fzd2⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129 * C57BL/6 * LPT/LeJ

cardiovascular system

abnormal heart morphology ( J:189062 )

• 50% of embryos (n=6) display cardiac defects compared to 0% of embryos heterozygous for either mutation alone

ventricular septal defect ( J:189062 )

• most defects are VSDs

Genotype
MGI:5444709

cx33

• Allelic Composition: Fzd7^tm1.1Nat/Fzd7^tm1.1Nat; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129 * C57BL/6 * LPT/LeJ

cardiovascular system

abnormal heart morphology ( J:189062 )

• 35% of embryos (n=20) display cardiac defects

ventricular septal defect ( J:189062 )

• most defects are VSDs

craniofacial

cleft palate ( J:189062 )

• in 4% of embryos (n=25)

digestive/alimentary system

cleft palate ( J:189062 )

• in 4% of embryos (n=25)

growth/size/body

cleft palate ( J:189062 )

• in 4% of embryos (n=25)

Genotype
MGI:5661425

cx34

• Allelic Composition: Ankrd6^tm1Pche/Ankrd6^tm1Pche; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129 * LPT/LeJ

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:216288 )

• patterning and polarity defects

abnormal cochlear outer hair cell morphology ( J:216288 )

• coordinated orientation of the outer-most row of hair cells is disrupted

• 29.2% of the 4th row of hair cells have an orientation deviation of 30 degrees or larger from the planar cell polarity axis compared to only 0.9% of hairs in wild-type controls

reproductive system

vagina atresia ( J:216288 )

♀

female infertility ( J:216288 )

♀ • all females are sterile compared to less than 10% of mice heterozygous for Vangl2^Lp alone

nervous system

abnormal cochlear hair cell morphology ( J:216288 )

• patterning and polarity defects

abnormal cochlear outer hair cell morphology ( J:216288 )

• coordinated orientation of the outer-most row of hair cells is disrupted

• 29.2% of the 4th row of hair cells have an orientation deviation of 30 degrees or larger from the planar cell polarity axis compared to only 0.9% of hairs in wild-type controls

Genotype
MGI:5473706

cx35

• Allelic Composition: Cfl1^tm1.2Wit/Cfl1^tm1.2Wit; Vangl2^Lp/Vangl2^Lp
• Genetic Background: involves: 129 * LPT/LeJ

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:194042 )

• arrest at approximately E9.5

embryo

abnormal embryo turning ( J:194042 )

• fail to undergo turning

embryonic growth arrest ( J:194042 )

• at approximately E9.5

decreased embryo size ( J:194042 )

• shorter at E9.5

open neural tube ( J:194042 )

• open along the entire axis of the embryo at E9.5

abnormal somite development ( J:194042 )

growth/size/body

decreased embryo size ( J:194042 )

• shorter at E9.5

nervous system

open neural tube ( J:194042 )

• open along the entire axis of the embryo at E9.5

Genotype
MGI:3047813

cx36

• Allelic Composition: Vangl2^Lp/Vangl2⁺; Ptk7^{Gt(Betageo)1Matl}/Ptk7⁺
• Genetic Background: involves: 129P2/Ola * C57BL/6 * LPT/LeJ

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:91298 )

N • hair cell stereociliary bundle morphology is mostly unaffected

nervous system

spina bifida ( J:91298 )

• spina bifida is seen in 94% of double heterozygotes

embryo

spina bifida ( J:91298 )

• spina bifida is seen in 94% of double heterozygotes

Genotype
MGI:4819599

cx37

• Allelic Composition: Vangl1^Gt(XL802)Byg/Vangl1^Gt(XL802)Byg; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129P2/OlaHsd * A

reproductive system

vagina atresia ( J:162640 )

♀

female infertility ( J:162640 )

♀

nervous system

abnormal cochlear inner hair cell morphology ( J:162640 )

• inner hair cells are misoriented compared to in wild-type mice

abnormal cochlear outer hair cell morphology ( J:162640 )

• outer hair cells are misoriented compared to in wild-type mice

limbs/digits/tail

short tail ( J:162640 )

• compared with Vangl1^Gt(XL802)Byg/Vangl1^Gt(XL802)Byg Vangl2^tm1.2Yy/Vangl2⁺

hearing/vestibular/ear

abnormal cochlear inner hair cell morphology ( J:162640 )

• inner hair cells are misoriented compared to in wild-type mice

abnormal cochlear outer hair cell morphology ( J:162640 )

• outer hair cells are misoriented compared to in wild-type mice

Genotype
MGI:3846578

cx38

• Allelic Composition: Fat4^tm1.1Hmc/Fat4^tm1.1Hmc; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129P2/OlaHsd * A * FVB/N

renal/urinary system

kidney cyst ( J:138247 )

• increase in the severity of cystic tubules compared to mice homozygous for Fat4^tm1.1Hmc alone

growth/size/body

kidney cyst ( J:138247 )

• increase in the severity of cystic tubules compared to mice homozygous for Fat4^tm1.1Hmc alone

Genotype
MGI:3815076

cx39

• Allelic Composition: Cthrc1^tm1Hssk/Cthrc1^tm1Hssk; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:140886 )

• orientation is significantly disrupted

• organization of hair cells is normal

abnormal cochlear inner hair cell morphology ( J:140886 )

• disruptions are most severe for inner hair cells

nervous system

abnormal cochlear hair cell morphology ( J:140886 )

• orientation is significantly disrupted

• organization of hair cells is normal

abnormal cochlear inner hair cell morphology ( J:140886 )

• disruptions are most severe for inner hair cells

Genotype
MGI:3815075

cx40

• Allelic Composition: Cthrc1^tm1Hssk/Cthrc1⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

nervous system

abnormal neural tube closure ( J:140886 )

• Background Sensitivity: defects seen in the midbrain region at E13.5

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:140886 )

N • sensory hair cells in the cochlea are normal

embryo

abnormal neural tube closure ( J:140886 )

• Background Sensitivity: defects seen in the midbrain region at E13.5

Genotype
MGI:3815079

cx41

• Allelic Composition: Cthrc1^tm1Hssk/Cthrc1⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CD-1

nervous system

nervous system phenotype ( J:140886 )

N • Background Sensitivity: no defects in neural tube closure are seen

Genotype
MGI:3778824

cx42

• Allelic Composition: Vangl1^Gt(XL802)Byg/Vangl1⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * LPT/LeJ

Vangl1^Gt(XL802)Byg/Vangl1⁺ Vangl2^Lp/Vangl2⁺ and Vangl2^Lp/Vangl2^Lp embryos exhibit aberrant right subclavian artery

mortality/aging

perinatal lethality, incomplete penetrance ( J:132697 )

• fewer than expected double heterozygotes are found at weaning (20% rather than the expected 50%) given the presence of craniorachischisis late embryonic lethality is probably the cause of the distorted ratio

nervous system

craniorachischisis ( J:132697 )

• seen in over 60% of double heterozygotes at E13.5 - E18.5

• phenotype is as severe as in mice homozygous for Vangl2^Lp alone

• no obvious neural tube defects are seen in surviving mice

abnormal cochlear hair cell stereociliary bundle morphology ( J:132697 )

• profoundly distorted

abnormal orientation of inner hair cell stereociliary bundles ( J:132697 )

• 20% of inner hair cell bundles are misoriented

abnormal orientation of outer hair cell stereociliary bundles ( J:132697 )

• some bundles in all 3 layers are misoriented especially at the apical turn (over 50% of bundles in OHC1, 65% in OHC2, over 80% in OHC3)

• vertices are randomly oriented with rotation angles of 40 - 180 degrees

cardiovascular system

cardiovascular system phenotype ( J:132697 )

N • unlike mice homozygous for Vangl2^Lp alone, no outflow tract abnormalities are detected in double heterozygotes

retroesophageal right subclavian artery ( J:132697 )

• at E14.5, the right subclavian artery is positioned dorsal to the esophagus

hearing/vestibular/ear

abnormal cochlea morphology ( J:132697 )

• reduced in size at E18.5 in mice displaying craniorachischisis

abnormal cochlear hair cell stereociliary bundle morphology ( J:132697 )

• profoundly distorted

abnormal orientation of inner hair cell stereociliary bundles ( J:132697 )

• 20% of inner hair cell bundles are misoriented

abnormal orientation of outer hair cell stereociliary bundles ( J:132697 )

• some bundles in all 3 layers are misoriented especially at the apical turn (over 50% of bundles in OHC1, 65% in OHC2, over 80% in OHC3)

• vertices are randomly oriented with rotation angles of 40 - 180 degrees

limbs/digits/tail

curly tail ( J:132697 )

embryo

craniorachischisis ( J:132697 )

• seen in over 60% of double heterozygotes at E13.5 - E18.5

• phenotype is as severe as in mice homozygous for Vangl2^Lp alone

• no obvious neural tube defects are seen in surviving mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neural tube defect		DOID:0080074	OMIM:301410 OMIM:601634	J:132697

Genotype
MGI:4838144

cx43

• Allelic Composition: Fzd1^tm1.1Nat/Fzd1⁺; Fzd2^tm1.1Nat/Fzd2⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * LPT/LeJ

embryo

open neural tube ( J:165556 )

• in 4 of 7 mice, more common in the rostral neural tube

cardiovascular system

ventricular septal defect ( J:165556 )

• muscular and/or membranous in mice with neural tube defects

nervous system

open neural tube ( J:165556 )

• in 4 of 7 mice, more common in the rostral neural tube

Genotype
MGI:4838145

cx44

• Allelic Composition: Fzd2^tm1.1Nat/Fzd2^tm1.1Nat; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * LPT/LeJ

nervous system

open neural tube ( J:165556 )

• in all mice, more common in the caudal neural tube

abnormal cochlear hair cell morphology ( J:165556 )

• cochlear hair cell defects (hair cell number and outer hair cell row 3 orientation) are modestly more severe than in Vangl2^Lp heterozygotes

abnormal cochlear hair cell number ( J:165556 )

abnormal orientation of outer hair cell stereociliary bundles ( J:165556 )

• most severe in outer hair cell row 3

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:165556 )

• cochlear hair cell defects (hair cell number and outer hair cell row 3 orientation) are modestly more severe than in Vangl2^Lp heterozygotes

abnormal cochlear hair cell number ( J:165556 )

abnormal orientation of outer hair cell stereociliary bundles ( J:165556 )

• most severe in outer hair cell row 3

cardiovascular system

ventricular septal defect ( J:165556 )

• muscular and/or membranous in mice with neural tube defects

embryo

open neural tube ( J:165556 )

• in all mice, more common in the caudal neural tube

craniofacial

cleft palate ( J:165556 )

• in 50% of mice

digestive/alimentary system

cleft palate ( J:165556 )

• in 50% of mice

growth/size/body

cleft palate ( J:165556 )

• in 50% of mice

Genotype
MGI:4838143

cx45

• Allelic Composition: Fzd1^tm1.1Nat/Fzd1⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * LPT/LeJ

embryo

open neural tube ( J:165556 )

• in 12 of 27 mice, more common in the rostral neural tube

cardiovascular system

ventricular septal defect ( J:165556 )

• muscular and/or membranous in mice with neural tube defects

nervous system

open neural tube ( J:165556 )

• in 12 of 27 mice, more common in the rostral neural tube

Genotype
MGI:2677880

cx46

• Allelic Composition: Cobl^C101/Cobl^C101; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129S2/SvPas * LPT/LeJ

nervous system

exencephaly ( J:85744 )

• open neural tubes in the midbrain region

• observable by E9.5 and occurring with 20% penetrance, this phenotype was not observed in lone C101 homozygotes or lone Lp heterozygotes

Genotype
MGI:2677879

cx47

• Allelic Composition: Cobl^C101/Cobl^C101; Vangl2^Lp/Vangl2^Lp
• Genetic Background: involves: 129S2/SvPas * LPT/LeJ

nervous system

exencephaly ( J:85744 )

• in double homozygotes there is a rostral extension of the neural tube defect such that embryos display an open neural tube from the midbrain to the tail in 36% of the mice

Genotype
MGI:3608972

cx48

• Allelic Composition: Vangl2^Lp/Vangl2⁺; Mkks^{Gt(OST367255)Lex}/Mkks⁺
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J * LPT/LeJ

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:102697 )

• all double heterozygotes die by E13.5

hearing/vestibular/ear

abnormal outer hair cell stereociliary bundle morphology ( J:102697 )

• some outer hair cell stereociliary hair bundles have a flattened shape

abnormal orientation of outer hair cell stereociliary bundles ( J:102697 )

• some outer hair cell stereociliary hair bundles are misoriented

nervous system

abnormal outer hair cell stereociliary bundle morphology ( J:102697 )

• some outer hair cell stereociliary hair bundles have a flattened shape

abnormal orientation of outer hair cell stereociliary bundles ( J:102697 )

• some outer hair cell stereociliary hair bundles are misoriented

Genotype
MGI:3831926

cx49

• Allelic Composition: Dvl3^tm1Awb/Dvl3^tm1Awb; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129S6/SvEvTac * A * Black Swiss

nervous system

abnormal neural tube morphology ( J:142392 )

• some mice develop similar neural tube defects as in Dvl3^tm1Awb Vangl2^Lp double heterozygotes

craniorachischisis ( J:142392 )

• in 6 of 16 mice

decreased cochlear outer hair cell number ( J:142392 )

• some mice exhibit a loss of outer hair cell rows compared to in wild-type mice along 5% to 20% of the cochlear length

increased cochlear hair cell number ( J:142392 )

• some mice exhibit additional rows of outer and inner cells in the apical region of the cochlea compared to in wild-type mice

abnormal orientation of cochlear hair cell stereociliary bundles ( J:142392 )

• the orientation of many cochlear hair cell stereociliary bundles is disrupted in the base and middle of the cochlear ducts

• mice with neural tube defects exhibit more severe orientation defects than in mice with normal neural tube closure

• stereociliary bundles in apical regions are rotated compared to in wild-type mice

cardiovascular system

abnormal cardiac outflow tract development ( J:142392 )

• mice exhibit conotruncal defects

hearing/vestibular/ear

decreased cochlear outer hair cell number ( J:142392 )

• some mice exhibit a loss of outer hair cell rows compared to in wild-type mice along 5% to 20% of the cochlear length

increased cochlear hair cell number ( J:142392 )

• some mice exhibit additional rows of outer and inner cells in the apical region of the cochlea compared to in wild-type mice

abnormal orientation of cochlear hair cell stereociliary bundles ( J:142392 )

• the orientation of many cochlear hair cell stereociliary bundles is disrupted in the base and middle of the cochlear ducts

• mice with neural tube defects exhibit more severe orientation defects than in mice with normal neural tube closure

• stereociliary bundles in apical regions are rotated compared to in wild-type mice

inner ear hypoplasia ( J:142392 )

• in mice with neural tube defects

embryo

abnormal neural tube morphology ( J:142392 )

• some mice develop similar neural tube defects as in Dvl3^tm1Awb Vangl2^Lp double heterozygotes

craniorachischisis ( J:142392 )

• in 6 of 16 mice

Genotype
MGI:3831924

cx50

• Allelic Composition: Dvl3^tm1Awb/Dvl3⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129S6/SvEvTac * A * Black Swiss

nervous system

abnormal neural tube morphology ( J:142392 )

• some mice develop neural tube abnormalities such as craniorachischisis and exencephaly

incomplete rostral neuropore closure ( J:142392 )

• some mice develop defects in rostral neural tube closure

craniorachischisis ( J:142392 )

• in 5 of 22 mice

decreased cochlear outer hair cell number ( J:142392 )

• some mice exhibit a loss of outer hair cell rows compared to in wild-type mice along 5% to 20% of the cochlear length

increased cochlear hair cell number ( J:142392 )

• some mice exhibit additional rows of outer and inner cells in the apical region of the cochlea compared to in wild-type mice

abnormal orientation of cochlear hair cell stereociliary bundles ( J:142392 )

• the orientation of cochlear hair cell stereociliary bundles in mice with neural tube defects is disrupted in the base and middle of the cochlear ducts

• stereociliary bundles in apical regions are rotated compared to in wild-type mice

exencephaly ( J:142392 )

• in 2 of 22 mice

cardiovascular system

cardiovascular system phenotype ( J:142392 )

N • hearts develop normally

hearing/vestibular/ear

decreased cochlear outer hair cell number ( J:142392 )

• some mice exhibit a loss of outer hair cell rows compared to in wild-type mice along 5% to 20% of the cochlear length

increased cochlear hair cell number ( J:142392 )

• some mice exhibit additional rows of outer and inner cells in the apical region of the cochlea compared to in wild-type mice

abnormal orientation of cochlear hair cell stereociliary bundles ( J:142392 )

• the orientation of cochlear hair cell stereociliary bundles in mice with neural tube defects is disrupted in the base and middle of the cochlear ducts

• stereociliary bundles in apical regions are rotated compared to in wild-type mice

inner ear hypoplasia ( J:142392 )

• in mice with neural tube defects

embryo

abnormal neural tube morphology ( J:142392 )

• some mice develop neural tube abnormalities such as craniorachischisis and exencephaly

incomplete rostral neuropore closure ( J:142392 )

• some mice develop defects in rostral neural tube closure

craniorachischisis ( J:142392 )

• in 5 of 22 mice

Genotype
MGI:5520977

cx51

• Allelic Composition: Sestd1^tm1.1Bnrc/Sestd1^tm1.1Bnrc; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129S6/SvEvTac * A * C57BL/6NCr

reproductive system

abnormal reproductive system development ( J:201925 )

• genitourinary defects in 2 of 15 mice compared with 4 of 11 Sestd1^tm1.1Bnrc homozygotes

limbs/digits/tail

short tail ( J:201925 )

• in 1 of 15 mice

curly tail ( J:201925 )

• in 6 of 15 mice

renal/urinary system

abnormal urinary system development ( J:201925 )

• genitourinary defects in 2 of 15 mice compared with 4 of 11 Sestd1^tm1.1Bnrc homozygotes

Genotype
MGI:5520978

cx52

• Allelic Composition: Sestd1^tm1.1Bnrc/Sestd1⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129S6/SvEvTac * A * C57BL/6NCr

limbs/digits/tail

curly tail ( J:201925 )

• in 69 of 84 mice

Genotype
MGI:3715990

cx53

• Allelic Composition: Dvl2^tm1Awb/Dvl2^tm1Awb; Tg(Dvl2/EGFP)2Awb/?; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129S6/SvEvTac * LPT/LeJ

normal phenotype

no abnormal phenotype detected ( J:108512 )

• mice are restored to fertile adults

Genotype
MGI:3608687

cx54

• Allelic Composition: Dvl2^tm1Awb/Dvl2^tm1Awb; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129S6/SvEvTac * LPT/LeJ

embryo

abnormal embryo development ( J:108512 )

• severe reduction in the embryo length to width ratio is observed similar to in Dvl1^tm1Awb Dvl2^tm1Awb Vangl2^Lp triple homozygotes

craniorachischisis ( J:108512 )

• similar to that observed in Dvl1^tm1Awb Dvl2^tm1Awb Vangl2^Lp triple homozygotes

hearing/vestibular/ear

abnormal organ of Corti morphology ( J:100861 )

• shorter, wider chochlear ducts

increased cochlear hair cell number ( J:100861 )

• increased rows of hair cells within the third of the cochlea nearest the apex

abnormal orientation of cochlear hair cell stereociliary bundles ( J:100861 )

• misorientation of stereociliary bundles at E18.5

abnormal cochlear inner hair cell morphology ( J:108512 )

• occasionally misaligned inner hair cells are obverse

nervous system

craniorachischisis ( J:108512 )

• similar to that observed in Dvl1^tm1Awb Dvl2^tm1Awb Vangl2^Lp triple homozygotes

increased cochlear hair cell number ( J:100861 )

• increased rows of hair cells within the third of the cochlea nearest the apex

abnormal orientation of cochlear hair cell stereociliary bundles ( J:100861 )

• misorientation of stereociliary bundles at E18.5

abnormal cochlear inner hair cell morphology ( J:108512 )

• occasionally misaligned inner hair cells are obverse

mortality/aging

neonatal lethality, complete penetrance ( J:108512 )

• no mice are recovered at birth

Genotype
MGI:3715984

cx55

• Allelic Composition: Dvl1^tm1Awb/Dvl1⁺; Dvl2^tm1Awb/Dvl2^tm1Awb; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129S6/SvEvTac * LPT/LeJ

mortality/aging

neonatal lethality, complete penetrance ( J:108512 )

• no mice are recovered at birth

nervous system

craniorachischisis ( J:108512 )

• similar to that observed in Dvl1^tm1Awb Dvl2^tm1Awb Vangl2^Lp triple homozygotes

embryo

craniorachischisis ( J:108512 )

• similar to that observed in Dvl1^tm1Awb Dvl2^tm1Awb Vangl2^Lp triple homozygotes

Genotype
MGI:3715987

cx56

• Allelic Composition: Dvl1^tm1Awb/Dvl1^tm1Awb; Dvl2^tm1Awb/Dvl2^tm1Awb; Vangl2^Lp/Vangl2^Lp
• Genetic Background: involves: 129S6/SvEvTac * LPT/LeJ

nervous system

craniorachischisis ( J:108512 )

embryo

craniorachischisis ( J:108512 )

Genotype
MGI:3608975

cx57

• Allelic Composition: Bbs1^Gt1Nk/Bbs1⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: 129S7/SvEvBrd * LPT/LeJ

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:102697 )

• 7% of double heterozygotes die by E13.5

hearing/vestibular/ear

abnormal outer hair cell stereociliary bundle morphology ( J:102697 )

• some outer hair cell stereociliary hair bundles have a flattened shape

abnormal orientation of outer hair cell stereociliary bundles ( J:102697 )

• some outer hair cell stereociliary hair bundles are misoriented

nervous system

abnormal outer hair cell stereociliary bundle morphology ( J:102697 )

• some outer hair cell stereociliary hair bundles have a flattened shape

abnormal orientation of outer hair cell stereociliary bundles ( J:102697 )

• some outer hair cell stereociliary hair bundles are misoriented

Genotype
MGI:4830332

cx58

• Allelic Composition: Ptk7^chz/Ptk7⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: A * BALB/cAnN * C3H/HeH

embryo

spina bifida ( J:163834 )

• 23% exhibit spina bifida or craniorachischisis

craniorachischisis ( J:163834 )

• 23% exhibit spina bifida or craniorachischisis

nervous system

spina bifida ( J:163834 )

• 23% exhibit spina bifida or craniorachischisis

craniorachischisis ( J:163834 )

• 23% exhibit spina bifida or craniorachischisis

Genotype
MGI:4440638

cx59

• Allelic Composition: Sec24b^Y613X/Sec24b⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: A * C3H/He * C57BL/6

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:158452 )

• over 50% of mice die between late embryogenesis and four weeks of age

postnatal lethality, incomplete penetrance ( J:158452 )

• over 50% of mice die between late embryogenesis and four weeks of age

nervous system

spina bifida ( J:158452 )

• in 68% of mice

embryo

spina bifida ( J:158452 )

• in 68% of mice

Genotype
MGI:7385102

cx60

• Allelic Composition: Rpl10a^em2Mbar/Rpl10a⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: A * C57BL/6

embryo

spina bifida ( J:328993 )

• low frequency as in Vangl2^Lp heterozygotes

nervous system

spina bifida ( J:328993 )

• low frequency as in Vangl2^Lp heterozygotes

Genotype
MGI:7287423

cx61

• Allelic Composition: Usp39^em1Imat/Usp39⁺; Vangl2^Lp/Vangl2^Lp
• Genetic Background: involves: A * CD-1

embryo

short rostral-caudal axis ( J:324183 )

• shorter than in Vangl2^Lp homozygotes

limbs/digits/tail

abnormal limb development ( J:324183 )

• precocious hindlimb induction

Genotype
MGI:3794074

cx62

• Allelic Composition: Grhl3^ct/?; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: A * GFF

nervous system

meningomyelocele ( J:125330 )

• mice exhibit meningomyelocele

abnormal astrocyte morphology ( J:125330 )

• at E16.5 and E18.5 mice with meningomyelocele display increased astrocyte staining compared to in wild-type mice

abnormal spinal cord morphology ( J:125330 )

• in mice with meningomyelocele, the dorsal region of the neural tube lays laterally to the ventral horn and the dorsal white matter is moved into a ventrolateral position unlike in wild-type mice

• at E16.5, the number of neuronal cells in the meningomyelocele placode is decreased compared to in wild-type mice

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:125330 )

• mice exhibit meningomyelocele with hypotonic hindlimbs with spontaneous and extensive movement of the hip and knee joints but only slight movement at the ankle joints

• mice do not display coordination between fore- and hindlimbs

• mice occasionally exhibit plantar steps that demonstrate the ability to support their body weight

growth/size/body

decreased fetal weight ( J:125330 )

• mice with meningomyelocele exhibit reduced fetal weight

skeleton

meningomyelocele ( J:125330 )

• mice exhibit meningomyelocele

embryo

meningomyelocele ( J:125330 )

• mice exhibit meningomyelocele

Genotype
MGI:5571494

cx63

• Allelic Composition: Lrp6^skax26/Lrp6⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: A/J * 129S6/SvEvTac * C57BL/6 * C57BL/6J

hearing/vestibular/ear

abnormal orientation of outer hair cell stereociliary bundles ( J:206979 )

• everely affected in OHC2 and OHC3 layers at all three regions analyzed except for OHC3 in the middle region of the organ of Corti

limbs/digits/tail

curly tail ( J:206979 )

• kinky/looped tail in most mice

kinked tail ( J:206979 )

• kinky/looped tail in most mice

embryo

spina bifida ( J:206979 )

• in some mice unlike single heterozygotes

nervous system

spina bifida ( J:206979 )

• in some mice unlike single heterozygotes

abnormal orientation of outer hair cell stereociliary bundles ( J:206979 )

• everely affected in OHC2 and OHC3 layers at all three regions analyzed except for OHC3 in the middle region of the organ of Corti

Genotype
MGI:5056406

cx64

• Allelic Composition: Scrib^crn2/Scrib⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: A/J * FVB/N

nervous system

craniorachischisis ( J:174027 )

• show either craniorachischisis or loop tail

embryo

craniorachischisis ( J:174027 )

• show either craniorachischisis or loop tail

limbs/digits/tail

curly tail ( J:174027 )

• show either craniorachischisis or loop tail

Genotype
MGI:3797053

cx65

• Allelic Composition: Scrib^Crc/Scrib⁺; Vangl2⁺/Vangl2^Lp
• Genetic Background: involves: BALB/c * C57BL/6 * CBA/Ca * LPT/LeJ * NMRI * SWR

nervous system

spina bifida ( J:72608 )

craniorachischisis ( J:72608 )

• 29 of 54 double heterozygotes exhibit craniorachisichisis and the remainder had either spina bifida or a looped tail

limbs/digits/tail

curly tail ( J:72608 )

• in a small minority of double heterozygotes

embryo

spina bifida ( J:72608 )

craniorachischisis ( J:72608 )

• 29 of 54 double heterozygotes exhibit craniorachisichisis and the remainder had either spina bifida or a looped tail

Genotype
MGI:4356109

cx66

• Allelic Composition: Prickle1^tm1Nue/Prickle1⁺; Vangl2^Lp/Vangl2⁺
• Genetic Background: involves: C57BL/6J * CBA * LPT/LeJ

embryo

abnormal embryonic epiblast morphology ( J:151993 )

• nuclei in the epiblast are more spherical and randomly aligned along the apical basal axis

• expression analysis indicates that apical-basal cell polarity is disrupted similar to the phenotype of single homozygous Prickle1 mutant mice

Genotype
MGI:5473703

cx67

• Allelic Composition: Cfl1^c5/Cfl1^c5; Vangl2^Lp/Vangl2^Lp
• Genetic Background: involves: C57BL/6J * LPT/LeJ

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:194042 )

• arrest at approximately E9.5

embryo

abnormal embryo turning ( J:194042 )

• fail to undergo turning

abnormal left-right axis patterning ( J:194042 )

• at E8.0 - E8.5 expression analysis indicates randomized left-right axis patterning

embryonic growth arrest ( J:194042 )

• at approximately E9.5

decreased embryo size ( J:194042 )

• shorter at E9.5

open neural tube ( J:194042 )

• open along the entire axis of the embryo at E9.5

abnormal notochord morphology ( J:194042 )

• midline is shorter and wider at the 1 to 4 somite stage compared to either single mutant

• threefold shorter and wider compared to wild-type controls, twofold shorter and wider compared to Vangl2^Lp single mutants

• change in size is not due to changes in cell shape

abnormal primitive node morphology ( J:194042 )

• expression analysis indicates many node cells lack posterior polarization

abnormal embryonic cilium location or orientation ( J:194042 )

• cilia are normal in length but do not point uniformly to the posterior and their position on the cell is more variable than in controls

abnormal somite development ( J:194042 )

abnormal somite size ( J:194042 )

• significantly reduced length to width ratio compared to either single mutant

cardiovascular system

abnormal heart looping ( J:194042 )

abnormal direction of heart looping ( J:194042 )

• in 2 of 6 embryos at E9.5

failure of heart looping ( J:194042 )

• a linear heart tube is seen at E9.5 in 1 of 6 embryos

growth/size/body

decreased embryo size ( J:194042 )

• shorter at E9.5

heterotaxia ( J:194042 )

• at E8.0 - E8.5 expression analysis indicates randomized left-right axis patterning

nervous system

open neural tube ( J:194042 )

• open along the entire axis of the embryo at E9.5

cellular

abnormal embryonic cilium location or orientation ( J:194042 )

• cilia are normal in length but do not point uniformly to the posterior and their position on the cell is more variable than in controls

Genotype
MGI:3608681

cx68

• Allelic Composition: Vangl2^Lp/Vangl2^Lp; Tg(Dvl2/EGFP)2Awb/?
• Genetic Background: involves: LPT/LeJ

hearing/vestibular/ear

abnormal organ of Corti morphology ( J:100861 )

• at E18.5 the polarized subcellular distribution of Dvl2 driven GFP expression in the differentiating organ of Corti is disrupted