All Phenotypes Msx1<tm1Bero> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Msx1^tm1Bero/Msx1^tm1Bero	B6.129P2-Msx1^tm1Bero	MGI:3702323
hm2	Msx1^tm1Bero/Msx1^tm1Bero	involves: 129P2/OlaHsd	MGI:3607401
ht3	Msx1^{tm2.1(cre/ERT2)Bero}/Msx1^tm1Bero	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:5473567
cn4	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Yvla Tagln^tm2(cre)Yec/Tagln⁺	involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * NMRI	MGI:5297709
cn5	Msx1^tm1Bero/Msx1^{tm2.1(cre/ERT2)Bero} Msx2^tm1Yvla/Msx2^tm1Yvla	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 * NMRI	MGI:5297713
cx6	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Bero	involves: 129 * 129P2/OlaHsd * C57BL/6 * C57BL/6J	MGI:2676082
cx7	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Yvla/Msx2^tm1Yvla	involves: 129P2/OlaHsd * 129S2/SvPas * BALB/c * C57BL/6 * SJL	MGI:3797244
cx8	Dlx5^tm1Levi/Dlx5^tm1Levi Msx1^tm1Bero/Msx1^tm1Bero	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	MGI:3702326
cx9	Barx1^tm1Shiv/Barx1^tm1Shiv Msx1^tm1Bero/Msx1⁺	involves: 129P2/OlaHsd * various	MGI:5307914
cx10	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Bero	involves: 129/Sv * 129P2/OlaHsd	MGI:5613192
cx11	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Yvla	involves: 129/Sv * BALB/c * C57BL/6 * SJL	MGI:3797245
cx12	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Bero	involves: 129/Sv * C57BL/6 * NMRI	MGI:3582224

Allelic Composition	Msx1^tm1Bero/Msx1^tm1Bero
Genetic Background	B6.129P2-Msx1^tm1Bero

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1^tm1Bero mutation (1 available); any Msx1 mutation (18 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:42035 )

• newborn homozygotes die within a few hours after birth

• Background Sensitivity: on a congenic C57BL/6J background, newborn homozygotes die more rapidly than homozygotes on mixed genetic background

craniofacial

abnormal cranium morphology ( J:42035 )

• at birth, homozygotes exhibit a rounded skull

absent alveolar process ( J:42035 )

• newborn homozygotes lack alveolar processes

absent incisors ( J:42035 )

• newborn homozygotes lack incisors

absent molars ( J:104286 )

• at P0, homozygotes lack mandibular molars

growth retardation of molars ( J:42035 )

• molars develop until E13.5 and reach the bud stage but fail to develop further

cleft chin ( J:42035 )

• at ~E13, mandibular development is slightly delayed, resulting in a cleft chin

absent malleus processus brevis ( J:42035 )

• newborn homozygotes lack the short process of the malleus, in the absence of other ear abnormalities

abnormal palate morphology ( J:42035 )

• at ~E13, the shape of the secondary palate is slightly altered

palatal shelf hypoplasia ( J:104286 )

cleft secondary palate ( J:42035 , J:104286 )

• all newborn homozygotes show a complete cleft of the secondary palate (J:42035)

short snout ( J:42035 )

• at birth, homozygotes display a shortened snout

shortened head ( J:42035 )

• at birth, homozygotes display a shortened head

embryo

abnormal roof plate morphology ( J:84975 )

• a normal roof plate fails to form in the caudal diencephalon as indicated by marker analysis

endocrine/exocrine glands

abnormal subcommissural organ morphology ( J:84975 )

• the subcommissural organ is reduced or absent in all mutants at E15.5

• the subcommissural organ is colonized by many nucleated cells instead of mainly neural fibers

respiratory system

respiratory distress ( J:42035 )

• newborns exhibit gasping respirations prior to death and contain air in their stomachs and intestines

• Background Sensitivity: on a congenic C57BL/6J background, newborn homozygotes contain less air in their stomachs than homozygotes on a mixed genetic background

nervous system

abnormal roof plate morphology ( J:84975 )

• a normal roof plate fails to form in the caudal diencephalon as indicated by marker analysis

abnormal brain morphology ( J:84975 )

• 1/3 of E11.5 mutants exhibit an indentation at the boundary between the diencephalon and mesencephalon

abnormal subcommissural organ morphology ( J:84975 )

• the subcommissural organ is reduced or absent in all mutants at E15.5

• the subcommissural organ is colonized by many nucleated cells instead of mainly neural fibers

hydrocephaly ( J:84975 )

• some mutants exhibit hydrocephalus at birth

dilated fourth ventricle ( J:84975 )

• seen in some mutants

abnormal brain commissure morphology ( J:84975 )

• posterior commissure is disorganized at E15.5

abnormal diencephalon morphology ( J:84975 )

• marker analysis indicates that dorsal midline cells are not maintained in prosomere 1 of the diencephalon

• cell death is reduced in the dorsal midline of the diencephalon of E10.5-E12.5 mutants

dilated third ventricle ( J:84975 )

• seen in some mutants

homeostasis/metabolism

cyanosis ( J:42035 )

• newborn homozygotes become rapidly cyanotic

skeleton

abnormal cranium morphology ( J:42035 )

• at birth, homozygotes exhibit a rounded skull

absent alveolar process ( J:42035 )

• newborn homozygotes lack alveolar processes

absent incisors ( J:42035 )

• newborn homozygotes lack incisors

absent molars ( J:104286 )

• at P0, homozygotes lack mandibular molars

growth retardation of molars ( J:42035 )

• molars develop until E13.5 and reach the bud stage but fail to develop further

cleft chin ( J:42035 )

• at ~E13, mandibular development is slightly delayed, resulting in a cleft chin

absent malleus processus brevis ( J:42035 )

• newborn homozygotes lack the short process of the malleus, in the absence of other ear abnormalities

digestive/alimentary system

abnormal palate morphology ( J:42035 )

• at ~E13, the shape of the secondary palate is slightly altered

palatal shelf hypoplasia ( J:104286 )

cleft secondary palate ( J:42035 , J:104286 )

• all newborn homozygotes show a complete cleft of the secondary palate (J:42035)

hearing/vestibular/ear

absent malleus processus brevis ( J:42035 )

• newborn homozygotes lack the short process of the malleus, in the absence of other ear abnormalities

limbs/digits/tail

limbs/digits/tail phenotype ( J:42035 )

N	• surprisingly, homozygotes exhibit no limb defects

growth/size/body

absent alveolar process ( J:42035 )

• newborn homozygotes lack alveolar processes

absent incisors ( J:42035 )

• newborn homozygotes lack incisors

absent molars ( J:104286 )

• at P0, homozygotes lack mandibular molars

growth retardation of molars ( J:42035 )

• molars develop until E13.5 and reach the bud stage but fail to develop further

cleft chin ( J:42035 )

• at ~E13, mandibular development is slightly delayed, resulting in a cleft chin

abnormal palate morphology ( J:42035 )

• at ~E13, the shape of the secondary palate is slightly altered

palatal shelf hypoplasia ( J:104286 )

cleft secondary palate ( J:42035 , J:104286 )

• all newborn homozygotes show a complete cleft of the secondary palate (J:42035)

short snout ( J:42035 )

• at birth, homozygotes display a shortened snout

shortened head ( J:42035 )

• at birth, homozygotes display a shortened head

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tooth agenesis		DOID:0050591	OMIM:106600 OMIM:150400 OMIM:313500 OMIM:602639 OMIM:604625 OMIM:610926 OMIM:PS106600	J:42035

Allelic Composition	Msx1^tm1Bero/Msx1^tm1Bero
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1^tm1Bero mutation (1 available); any Msx1 mutation (18 available)

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

nervous system

increased neuron number ( J:99936 )

• at E13.5 homozygotes have significantly more Gnrh1 expressing neurons (1300+/-116) compared to wild-type (939+/-20) and some of these cells are ectopically located in the olfactory epithelium

Allelic Composition	Msx1^{tm2.1(cre/ERT2)Bero}/Msx1^tm1Bero
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1^tm1Bero mutation (1 available); any Msx1 mutation (18 available)
Msx1^{tm2.1(cre/ERT2)Bero} mutation (2 available); any Msx1 mutation (18 available)

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

embryo

abnormal embryonic tissue morphology ( J:194129 )

• internal organ development is disrupted due to thoracoabdominoschisis

growth/size/body

abnormal facial morphology ( J:194129 )

• at E12.5, embryos have highly deformed faces

thoracoabdominoschisis ( J:194129 )

• at E12.3 embryos show thoracoabdominoschisis (opening of both the thorax and abdomen)

craniofacial

abnormal facial morphology ( J:194129 )

• at E12.5, embryos have highly deformed faces

nervous system

exencephaly ( J:194129 )

• at E12.5

liver/biliary system

abnormal liver development ( J:194129 )

• liver appears rudimentary

vision/eye

abnormal eye morphology ( J:194129 )

• embryos display atrophic eyes at E12.5

Allelic Composition	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Yvla Tagln^tm2(cre)Yec/Tagln⁺
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * NMRI

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1^tm1Bero mutation (1 available); any Msx1 mutation (18 available)
Msx2^tm1Bero mutation (1 available); any Msx2 mutation (23 available)
Msx2^tm1Yvla mutation (0 available); any Msx2 mutation (23 available)
Tagln^tm2(cre)Yec mutation (1 available); any Tagln mutation (28 available)

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

cardiovascular system

abnormal artery morphology ( J:173525 )

• superficial temporal artery is more branched than in controls

abnormal carotid artery morphology ( J:173525 )

• at E11.5, carotid artery (CA) overbranching is observed

abnormal vertebral artery morphology ( J:173525 )

• vertebral artery (VA) caliber is increased relative to controls

vascular smooth muscle hypoplasia ( J:173525 )

• number of smooth muscle actin-positive cells in CA is half that observed in controls

intracranial aneurysm ( J:173525 )

• in the head, aneurysms are frequently observed

intracranial hemorrhage ( J:173525 )

• in the head, hemorrhages are frequently observed

muscle

vascular smooth muscle hypoplasia ( J:173525 )

• number of smooth muscle actin-positive cells in CA is half that observed in controls

nervous system

intracranial hemorrhage ( J:173525 )

• in the head, hemorrhages are frequently observed

Allelic Composition	Msx1^tm1Bero/Msx1^{tm2.1(cre/ERT2)Bero} Msx2^tm1Yvla/Msx2^tm1Yvla
Genetic Background	involves: 129S2/SvPas * 129S6/SvEvTac * C57BL/6 * NMRI

Find Mice

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

cardiovascular system

abnormal carotid artery morphology ( J:173525 )

• increased carotid artery vessel diameter is observed

vascular smooth muscle hypoplasia ( J:173525 )

• a reduction in vascular smooth muscle cell (VSMC) coverage (depletion of mural cells) is observed

muscle

vascular smooth muscle hypoplasia ( J:173525 )

• a reduction in vascular smooth muscle cell (VSMC) coverage (depletion of mural cells) is observed

Allelic Composition	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Bero
Genetic Background	involves: 129 * 129P2/OlaHsd * C57BL/6 * C57BL/6J

Find Mice

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:84975 )

• resorption observed at E10.5 and E11.5, incomplete penetrance

embryo

decreased embryo size ( J:84975 )

• small embryo size at E10.5-E11.5

spina bifida ( J:84975 )

• seen in some embryos

growth/size/body

decreased embryo size ( J:84975 )

• small embryo size at E10.5-E11.5

nervous system

spina bifida ( J:84975 )

• seen in some embryos

decreased brain size ( J:84975 )

• small and abnormal brain

exencephaly ( J:84975 )

• observed in some cases, encompassing the posterior mesencephalon and the rhombencephalon

Allelic Composition	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Yvla/Msx2^tm1Yvla
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * BALB/c * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1^tm1Bero mutation (1 available); any Msx1 mutation (18 available)
Msx2^tm1Yvla mutation (0 available); any Msx2 mutation (23 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:136241 )

• mice do not survive beyond E14.5

craniofacial

abnormal craniofacial morphology ( J:136241 )

• mice exhibit craniofacial malformations

limbs/digits/tail

abnormal limb development ( J:136241 )

• mice exhibit limb malformations

nervous system

exencephaly ( J:136241 )

growth/size/body

thoracoabdominoschisis ( J:136241 )

• thoracoabdominoschisis

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

mortality/aging

neonatal lethality, complete penetrance ( J:104286 )

• double homozygotes die soon after delivery

craniofacial

abnormal neurocranium morphology ( J:104286 )

• at P0, double homozygotes exhibit severe retardation of mineralized bone deposition in calvaria

• at P0, double mutant vault bones are smaller and severely perforated with irregular borders relative to those seen in either single homozygote

abnormal fontanelle morphology ( J:104286 )

• at P0, double mutant fontanels appear to be open on the midline

abnormal basioccipital bone morphology ( J:104286 )

• at P0, double homozygotes display deformed basioccipitals, similar to Dlx5^tm1Levi homozygotes

abnormal basisphenoid bone morphology ( J:104286 )

• at P0, double homozygotes display deformed basisphenoids, similar to Dlx5^tm1Levi homozygotes

abnormal alisphenoid bone morphology ( J:104286 )

• at P0, double homozygotes display a disorganized foramina of the ala temporalis, similar to Dlx5^tm1Levi homozygotes

abnormal pterygoid bone morphology ( J:104286 )

• at P0, double homozygotes display deformed pterygoids, similar to Dlx5^tm1Levi homozygotes

abnormal temporal bone squamous part morphology ( J:104286 )

• at P0, double homozygotes display deformed squamosal bones, similar to Msx1^tm1Bero homozygotes

absent alveolar process ( J:104286 )

absent molars ( J:104286 )

• at P0, double homozygotes lack molar teeth, similar to Msx1^tm1Bero homozygotes

absent mandibular coronoid process ( J:104286 )

• at P0, double homozygotes lack the coronoid process, similar to single Dlx5^tm1Levi homozygotes

micrognathia ( J:104286 )

• at P0, double homozygotes display a shorter and coarser jaw relative to wild-type or to Msx1^tm1Bero homozygotes, although not as short as in Dlx5^tm1Levi homozygotes

abnormal malleus morphology ( J:104286 )

• at P0, double homozygotes display a malformed malleus with no head, similar to Msx1^tm1Bero homozygotes

• in addition, an ectopic bone is present, similar to Dlx5^tm1Levi homozygotes

absent malleus head ( J:104286 )

• at P0, double homozygotes display absence of caput mallei

abnormal nasal capsule morphology ( J:104286 )

• at P0, double homozygotes display hypoplasia and asymmetry of the nasal capsules, similar to Dlx5^tm1Levi homozygotes

palatal shelves fail to meet at midline ( J:104286 )

cleft secondary palate ( J:104286 )

• at E13.5, double homozygotes (2/2) display partly formed and elevated shelves which fail to come to contact and fuse

• at P0, double homozygotes (3/3) exhibit a mild clefting, as elevated shelves fail to fuse in the midline, indicating partial rescue of the severe Msx1-related palatal phenotype

digestive/alimentary system

palatal shelves fail to meet at midline ( J:104286 )

cleft secondary palate ( J:104286 )

• at E13.5, double homozygotes (2/2) display partly formed and elevated shelves which fail to come to contact and fuse

• at P0, double homozygotes (3/3) exhibit a mild clefting, as elevated shelves fail to fuse in the midline, indicating partial rescue of the severe Msx1-related palatal phenotype

skeleton

abnormal neurocranium morphology ( J:104286 )

• at P0, double homozygotes exhibit severe retardation of mineralized bone deposition in calvaria

• at P0, double mutant vault bones are smaller and severely perforated with irregular borders relative to those seen in either single homozygote

abnormal fontanelle morphology ( J:104286 )

• at P0, double mutant fontanels appear to be open on the midline

abnormal basioccipital bone morphology ( J:104286 )

• at P0, double homozygotes display deformed basioccipitals, similar to Dlx5^tm1Levi homozygotes

abnormal basisphenoid bone morphology ( J:104286 )

• at P0, double homozygotes display deformed basisphenoids, similar to Dlx5^tm1Levi homozygotes

abnormal alisphenoid bone morphology ( J:104286 )

• at P0, double homozygotes display a disorganized foramina of the ala temporalis, similar to Dlx5^tm1Levi homozygotes

abnormal pterygoid bone morphology ( J:104286 )

• at P0, double homozygotes display deformed pterygoids, similar to Dlx5^tm1Levi homozygotes

abnormal temporal bone squamous part morphology ( J:104286 )

• at P0, double homozygotes display deformed squamosal bones, similar to Msx1^tm1Bero homozygotes

absent alveolar process ( J:104286 )

absent molars ( J:104286 )

• at P0, double homozygotes lack molar teeth, similar to Msx1^tm1Bero homozygotes

absent mandibular coronoid process ( J:104286 )

• at P0, double homozygotes lack the coronoid process, similar to single Dlx5^tm1Levi homozygotes

micrognathia ( J:104286 )

• at P0, double homozygotes display a shorter and coarser jaw relative to wild-type or to Msx1^tm1Bero homozygotes, although not as short as in Dlx5^tm1Levi homozygotes

abnormal malleus morphology ( J:104286 )

• at P0, double homozygotes display a malformed malleus with no head, similar to Msx1^tm1Bero homozygotes

• in addition, an ectopic bone is present, similar to Dlx5^tm1Levi homozygotes

absent malleus head ( J:104286 )

• at P0, double homozygotes display absence of caput mallei

abnormal nasal capsule morphology ( J:104286 )

• at P0, double homozygotes display hypoplasia and asymmetry of the nasal capsules, similar to Dlx5^tm1Levi homozygotes

delayed bone ossification ( J:104286 )

• at P0, double hoomozygotes display delayed fore- and hindlimb ossification and a severe retardation of mineralized bone deposition in calvaria; only slight to mild delays are noted in single homozygotes

hearing/vestibular/ear

abnormal malleus morphology ( J:104286 )

• at P0, double homozygotes display a malformed malleus with no head, similar to Msx1^tm1Bero homozygotes

• in addition, an ectopic bone is present, similar to Dlx5^tm1Levi homozygotes

absent malleus head ( J:104286 )

• at P0, double homozygotes display absence of caput mallei

abnormal otic capsule morphology ( J:104286 )

• at birth, the vestibular portion of the otic capsule is always malformed, similar to Dlx5^tm1Levi homozygotes

respiratory system

abnormal nasal capsule morphology ( J:104286 )

• at P0, double homozygotes display hypoplasia and asymmetry of the nasal capsules, similar to Dlx5^tm1Levi homozygotes

growth/size/body

absent alveolar process ( J:104286 )

absent molars ( J:104286 )

• at P0, double homozygotes lack molar teeth, similar to Msx1^tm1Bero homozygotes

abnormal nasal capsule morphology ( J:104286 )

• at P0, double homozygotes display hypoplasia and asymmetry of the nasal capsules, similar to Dlx5^tm1Levi homozygotes

palatal shelves fail to meet at midline ( J:104286 )

cleft secondary palate ( J:104286 )

• at E13.5, double homozygotes (2/2) display partly formed and elevated shelves which fail to come to contact and fuse

• at P0, double homozygotes (3/3) exhibit a mild clefting, as elevated shelves fail to fuse in the midline, indicating partial rescue of the severe Msx1-related palatal phenotype

Allelic Composition	Barx1^tm1Shiv/Barx1^tm1Shiv Msx1^tm1Bero/Msx1⁺
Genetic Background	involves: 129P2/OlaHsd * various

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Barx1^tm1Shiv mutation (0 available); any Barx1 mutation (4 available)
Msx1^tm1Bero mutation (1 available); any Msx1 mutation (18 available)

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

craniofacial

arrest of tooth development ( J:180393 )

• permanent in molars at the bud stage

growth/size/body

arrest of tooth development ( J:180393 )

• permanent in molars at the bud stage

skeleton

arrest of tooth development ( J:180393 )

• permanent in molars at the bud stage

Allelic Composition	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Bero
Genetic Background	involves: 129/Sv * 129P2/OlaHsd

Find Mice

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

growth/size/body

decreased embryo size ( J:208848 )

• at E9.5 - E11.5

embryo

decreased embryo size ( J:208848 )

• at E9.5 - E11.5

abnormal neural tube morphology ( J:208848 )

• expression analysis indicates that the dorsal progenitor pool 1 cells are not specified and that the proportion of dorsal progenitor 3 cells is increased at E10.5

nervous system

abnormal neural tube morphology ( J:208848 )

• expression analysis indicates that the dorsal progenitor pool 1 cells are not specified and that the proportion of dorsal progenitor 3 cells is increased at E10.5

decreased spinal cord size ( J:208848 )

• at E9.5 - E11.5

Allelic Composition	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Yvla
Genetic Background	involves: 129/Sv * BALB/c * C57BL/6 * SJL

Find Mice

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

mortality/aging

perinatal lethality ( J:136241 )

craniofacial

abnormal craniofacial development ( J:136241 )

cleft palate ( J:136241 )

short snout ( J:136241 )

digestive/alimentary system

cleft palate ( J:136241 )

growth/size/body

cleft palate ( J:136241 )

short snout ( J:136241 )

Allelic Composition	Msx1^tm1Bero/Msx1^tm1Bero Msx2^tm1Bero/Msx2^tm1Bero
Genetic Background	involves: 129/Sv * C57BL/6 * NMRI

Find Mice

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:98917 )

• double homozygotes do not survive beyond E15

limbs/digits/tail

abnormal apical ectodermal ridge morphology ( J:98917 )

• maturation of the apical ectodermal ridge is impaired and regression is delayed; however initiation is normal

• at E10.2 and E11.5 the apical ectodermal ridge appears shorter and more diffuse

• at E12.5 the apical ectodermal ridge remains continuos along the entire apex of the limb and appears thicker than normal

small limb buds ( J:98917 )

• limb bud size is reduced by about 1/3 at E10.5 to E11.5 even in somite-matched embryos

• the mesenchymal anterior domain of the limb bud is not maintained after E10.5 and all of the mesenchyme in the limb bud assumes a posterior identity

• in the anterior portion of the limb bud the normal dorsal ventral boundary is not established at E10.5

abnormal carpal bone morphology ( J:98917 )

• the posterior elements are present, the medium elements are severely truncated, and the anterior elements are absent

oligodactyly ( J:98917 )

• at E14.5 mutants only have 1 phalange while control embryos have 2

• the missing digit is always the anterior most one

polydactyly ( J:98917 )

• 2 out of 18 mutant forelimbs had 6 digits

interdigital webbing ( J:98917 )

• at E14.5 interdigital webbing is retained

abnormal tarsal bone morphology ( J:98917 )

• the posterior elements are present, the medium elements are severely truncated, and the anterior elements are absent

short limbs ( J:98917 )

• at E14.5 the 3 segments of the limb are about 3/4 of the normal size

• general truncation of the anterior parts of the limbs with systematic loss of the anterior part of the zeugopod

embryo

abnormal apical ectodermal ridge morphology ( J:98917 )

• maturation of the apical ectodermal ridge is impaired and regression is delayed; however initiation is normal

• at E10.2 and E11.5 the apical ectodermal ridge appears shorter and more diffuse

• at E12.5 the apical ectodermal ridge remains continuos along the entire apex of the limb and appears thicker than normal

small limb buds ( J:98917 )

• limb bud size is reduced by about 1/3 at E10.5 to E11.5 even in somite-matched embryos

• the mesenchymal anterior domain of the limb bud is not maintained after E10.5 and all of the mesenchyme in the limb bud assumes a posterior identity

• in the anterior portion of the limb bud the normal dorsal ventral boundary is not established at E10.5

skeleton

abnormal carpal bone morphology ( J:98917 )

• the posterior elements are present, the medium elements are severely truncated, and the anterior elements are absent

abnormal tarsal bone morphology ( J:98917 )

• the posterior elements are present, the medium elements are severely truncated, and the anterior elements are absent

small scapula ( J:98917 )

• at E14.5 the scapula is about 3/4 of the normal size

abnormal pelvic girdle bone morphology ( J:98917 )

• at E14.5 the pelvic girdle is about 3/4 of the normal size

absent pubis ( J:98917 )

• mutants lack the pubis bone corresponding to the anterior part of the pelvis

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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