All Phenotypes Fgf8<tm1.4Mrt> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Fgf8^tm1.4Mrt
targeted mutation 1.4, Gail R Martin
MGI:2150348

Summary

23 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgf8^tm1.4Mrt/Fgf8^tm1.4Mrt	involves: 129P2/OlaHsd	MGI:2176822
ht2	Fgf8^tm1.2Mrt/Fgf8^tm1.4Mrt	involves: 129P2/OlaHsd	MGI:2176824
ht3	Fgf8^tm1.1Mrt/Fgf8^tm1.4Mrt	involves: 129P2/OlaHsd	MGI:2677315
cn4	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tg(CAG-Bgeo,-Fgf4)1Mrt/? Tg(Msx2-cre)5Rem/?	involves: 129P2/OlaHsd	MGI:3832340
cn5	Fgf8^tm1.1Mrt/Fgf8^tm1.4Mrt Foxg1^tm1M/Foxg1⁺	involves: 129P2/OlaHsd	MGI:3654832
cn6	Fgf8^tm1.1Mrt/Fgf8^tm1.4Mrt Foxg1^tm1(cre)Skm/Foxg1⁺	involves: 129P2/OlaHsd	MGI:3654834
cn7	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tg(Tbx1-cre)1Joe/0	involves: 129P2/OlaHsd	MGI:3037863
cn8	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Foxg1^tm1(cre)Skm/Foxg1⁺	involves: 129P2/OlaHsd	MGI:3654831
cn9	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^tm1Sor Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺	involves: 129P2/OlaHsd * 129S4/SvJaeSor * 129S7/SvEvBrd	MGI:3818077
cn10	En1^{tm7(cre/ESR1)Alj}/0 Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt	involves: 129P2/OlaHsd * 129S6/SvEvTac	MGI:4437223
cn11	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺	involves: 129P2/OlaHsd * 129S7/SvEvBrd	MGI:3818072
cn12	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tbx1^{tm4(cre/Esr1*)Bld}/Tbx1⁺	involves: 129P2/OlaHsd * 129S7/SvEvBrd	MGI:3641319
cn13	Fgf8^tm1.4Mrt/Fgf8⁺ Tbx1^{tm4(cre/Esr1*)Bld}/Tbx1⁺	involves: 129P2/OlaHsd * 129S7/SvEvBrd	MGI:3641318
cn14	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tg(Tnnt2-cre)5Blh/0	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * DBA/2	MGI:3818074
cn15	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tg(T-cre)1Lwd/0	involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1	MGI:3606231
cn16	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tg(Msx2-cre)5Rem/0	involves: 129P2/OlaHsd * C57BL/6 * CBA * CD-1 * FVB/N	MGI:2176849
cx17	Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt Fgf8^tm1.4Mrt/Fgf8⁺	B6.129-Gbx2^tm1.1Mrt Fgf8^tm1.4Mrt	MGI:3664074
cx18	Gbx2^tm1.1Mrt/Gbx2⁺ Fgf8^tm1.4Mrt/Fgf8⁺	B6.129-Gbx2^tm1.1Mrt Fgf8^tm1.4Mrt	MGI:3664073
cx19	Del(19Poll-Fbxw4)4Fsp/+ Fgf8^tm1.4Mrt/Fgf8⁺	involves: 129P2/OlaHsd * 129S1/Sv	MGI:5501452
cx20	Fgf8^tm1.4Mrt/Fgf8⁺ Tfap2a^tm1Will/Tfap2a^tm2.1Will	involves: 129P2/OlaHsd * 129S1/Sv * Black Swiss	MGI:5648001
cx21	Fgf8^tm1.4Mrt/Fgf8⁺ Fgf17^tm1Dor/Fgf17^tm1Dor	involves: 129P2/OlaHsd * 129S6/SvEvTac	MGI:3663107
cx22	Fgf8^tm1.4Mrt/Fgf8⁺ Gli3^tm1.1Alj/Gli3^tm1.1Alj	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	MGI:3803097
cx23	Fgf8^tm1.4Mrt/Fgf8⁺ Tbx1^tm1Bld/Tbx1⁺	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * ICR	MGI:3611260

Allelic Composition	Fgf8^tm1.4Mrt/Fgf8^tm1.4Mrt
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:56519 )

• by E9.5 embryos begin to die likely because the heart does not form

embryo

abnormal ectoderm development ( J:56519 )

• ectoderm on the anterior side of the embryo appears undifferentiated and fails to form a neural tube

abnormal mesoderm development ( J:56519 )

• at E8.5 embryos lack all mesodermally-derived tissues including the heart and somites; little mesoderm is detected anterior to the primitive streak

abnormal embryonic epiblast morphology ( J:56519 )

• after cells undergo epithelial-mesenchymal transition, at E7.5, majority of nascent mesodermal cells fail to migrate away from the primitive streak, resulting in deformation of the epiblast and inward collapse of the posterior side of the embryo

absent primitive node ( J:56519 )

• node does not form in mutants

absent somites ( J:56519 )

• somites do not form

abnormal primitive streak elongation ( J:56519 )

• at E7.5 in mutant embryos the streak never extends to the distal tip of the embryo

abnormal allantois morphology ( J:56519 )

• allantois is displaced anteriorly

abnormal amnion morphology ( J:56519 )

• an amnion can be identified but is often tortuous

abnormal chorion morphology ( J:56519 )

• a chorion can be identified but is often tortuous

cardiovascular system

absent heart ( J:56519 )

• the heart does not form

Allelic Composition	Fgf8^tm1.2Mrt/Fgf8^tm1.4Mrt
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.2Mrt mutation (0 available); any Fgf8 mutation (21 available)
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:56519 )

• by E9.5 embryos begin to die likely because the heart does not form

embryo

abnormal ectoderm development ( J:56519 )

• ectoderm on the anterior side of the embryo appears undifferentiated and fails to form a neural tube

abnormal mesoderm development ( J:56519 )

• at E8.5 embryos lack all mesodermally-derived tissues including the heart and somites; little mesoderm is detected anterior to the primitive streak

abnormal embryonic epiblast morphology ( J:56519 )

absent primitive node ( J:56519 )

• node does not form in mutants

absent somites ( J:56519 )

• somites do not form

abnormal primitive streak elongation ( J:56519 )

• at E7.5 in mutant embryos the streak never extends to the distal tip of the embryo

abnormal allantois morphology ( J:56519 )

• allantois is displaced anteriorly

abnormal amnion morphology ( J:56519 )

• an amnion can be identified but is often tortuous

abnormal chorion morphology ( J:56519 )

• a chorion can be identified but is often tortuous

cardiovascular system

absent heart ( J:56519 )

• the heart does not form

Allelic Composition	Fgf8^tm1.1Mrt/Fgf8^tm1.4Mrt
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.1Mrt mutation (1 available); any Fgf8 mutation (21 available)
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)

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

nervous system

decreased neuron apoptosis ( J:111586 )

• at E10.5 fewer apoptotic cells are detected at the telencephalic midline than in the conditional Fgf8 knockout mice

cellular

decreased neuron apoptosis ( J:111586 )

• at E10.5 fewer apoptotic cells are detected at the telencephalic midline than in the conditional Fgf8 knockout mice

Allelic Composition	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tg(CAG-Bgeo,-Fgf4)1Mrt/? Tg(Msx2-cre)5Rem/?
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.3Mrt mutation (1 available); any Fgf8 mutation (21 available)
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)
Tg(CAG-Bgeo,-Fgf4)1Mrt mutation (1 available)
Tg(Msx2-cre)5Rem mutation (2 available)

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

limbs/digits/tail

limbs/digits/tail phenotype ( J:104411 )

N	• reversal of abnormalities resulting from loss of Fgf8 alone • deltoid tuberosity is normal

polysyndactyly ( J:104411 )

• phenotype due to conditional over expression of Fgf4 retained

fused tarsal bones ( J:104411 )

abnormal limb development ( J:104411 )

abnormal limb bud morphology ( J:104411 )

abnormal digit development ( J:104411 )

growth/size/body

postnatal growth retardation ( J:104411 )

vision/eye

abnormal eyelid morphology ( J:104411 )

reproductive system

abnormal reproductive system morphology ( J:104411 )

embryo

abnormal limb bud morphology ( J:104411 )

skeleton

fused tarsal bones ( J:104411 )

Allelic Composition	Fgf8^tm1.1Mrt/Fgf8^tm1.4Mrt Foxg1^tm1M/Foxg1⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

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

nervous system

abnormal neuron apoptosis ( J:111586 )

• at E10.5 in the telencephalic midline, extent of apoptosis in Foxg1 hypomorphs resembles wild-type more than Fgf8^tm1.1Mrt/Fgf8^tm1.4Mrt hypomorphs

cellular

abnormal neuron apoptosis ( J:111586 )

• at E10.5 in the telencephalic midline, extent of apoptosis in Foxg1 hypomorphs resembles wild-type more than Fgf8^tm1.1Mrt/Fgf8^tm1.4Mrt hypomorphs

Allelic Composition	Fgf8^tm1.1Mrt/Fgf8^tm1.4Mrt Foxg1^tm1(cre)Skm/Foxg1⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

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

nervous system

increased neuron apoptosis ( J:111586 )

• apoptosis in the telencephalon is increased in a qualitatively similar manner to the Fgf8 conditional KOs, but is more severe

cellular

increased neuron apoptosis ( J:111586 )

• apoptosis in the telencephalon is increased in a qualitatively similar manner to the Fgf8 conditional KOs, but is more severe

Allelic Composition	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tg(Tbx1-cre)1Joe/0
Genetic Background	involves: 129P2/OlaHsd

Find Mice

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:88814 )

• most mice die between E18.5 and P1

cardiovascular system

cardiovascular system phenotype ( J:88814 )

N	• some defects observed as a result of Tbx1-deficiency, including those involving the aortic arch, were not observed

abnormal cardiovascular system morphology ( J:88814 )

• exhibit variable cardiovascular patterning defects listed below

aortic dissection ( J:88814 )

abnormal internal carotid artery morphology ( J:88814 )

• duplication of the internal carotid arteries

abnormal vascular smooth muscle morphology ( J:88814 )

• impaired differentiation in the great vessels

• muscular wall is of variable thickness and lacks the striated structural appearance of normal arterial smooth muscle

persistent truncus arteriosus ( J:88814 )

abnormal heart development ( J:88814 )

• Tetrology of Fallot

double outlet right ventricle ( J:88814 )

transposition of great arteries ( J:88814 )

atrial septal defect ( J:88814 )

• atrial septal defects

perimembraneous ventricular septal defect ( J:88814 )

• ventricular septal defects

immune system

abnormal thymus morphology ( J:88814 )

• some exhibit a single lobed thymus

small thymus ( J:88814 )

muscle

abnormal vascular smooth muscle morphology ( J:88814 )

• impaired differentiation in the great vessels

• muscular wall is of variable thickness and lacks the striated structural appearance of normal arterial smooth muscle

hematopoietic system

abnormal thymus morphology ( J:88814 )

• some exhibit a single lobed thymus

small thymus ( J:88814 )

endocrine/exocrine glands

abnormal thymus morphology ( J:88814 )

• some exhibit a single lobed thymus

small thymus ( J:88814 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:88814

Allelic Composition	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Foxg1^tm1(cre)Skm/Foxg1⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.3Mrt mutation (1 available); any Fgf8 mutation (21 available)
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)
Foxg1^tm1(cre)Skm mutation (2 available); any Foxg1 mutation (29 available)

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

nervous system

increased neuron apoptosis ( J:111586 )

• apoptosis in the telencephalon is increased in a qualitatively similar manner to the Fgf8 conditional KOs, but is more severe

cellular

increased neuron apoptosis ( J:111586 )

• apoptosis in the telencephalon is increased in a qualitatively similar manner to the Fgf8 conditional KOs, but is more severe

Allelic Composition	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^tm1Sor Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJaeSor * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.3Mrt mutation (1 available); any Fgf8 mutation (21 available)
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)
Gt(ROSA)26Sor^tm1Sor mutation (7 available); any Gt(ROSA)26Sor mutation (993 available)
Nkx2-5^tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (21 available)

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

cardiovascular system

abnormal heart development ( J:109474 )

• anterior heart field (AHF) cells are lost compared to controls; numbers of B-gal +ve cells in splanchnic mesoderm (SM) and pharyngeal endoderm are significantly reduced, causing thinning of these cell layers

• number of positive cells in pharyngeal arch core mesoderm (CM) is significantly decreased also

embryo

abnormal splanchnic mesoderm morphology ( J:109474 )

• thinning of splanchnic mesoderm due to significantly reduced numbers of B-gal +ve cells

Allelic Composition	En1^{tm7(cre/ESR1)Alj}/0 Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
En1^{tm7(cre/ESR1)Alj} mutation (1 available); any En1 mutation (34 available)
Fgf8^tm1.3Mrt mutation (1 available); any Fgf8 mutation (21 available)
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)

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

nervous system

abnormal Raphe nucleus morphology ( J:156717 )

• a reduction of serotonergic neurons in raphe nuclei

abnormal midbrain morphology ( J:156717 )

• E18.5 revealed a nearly complete loss of the midbrain and the cerebellum

abnormal substantia nigra morphology ( J:156717 )

• depletion of dopaminergic neurons at E18.5

small cerebellum ( J:156717 )

• E18.5 revealed a nearly complete loss of the midbrain and the cerebellum

decreased dopaminergic neuron number ( J:156717 )

• at E18.5 in the substantia nigra and ventral tegmental area

abnormal serotonergic neuron morphology ( J:156717 )

• at E18.5 a reduction of serotonergic neurons in the raphe nucleus

Allelic Composition	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺
Genetic Background	involves: 129P2/OlaHsd * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.3Mrt mutation (1 available); any Fgf8 mutation (21 available)
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)
Nkx2-5^tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (21 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:109474 )

• mutant embryos are present at expected ratio up to E9.5, but a marked reduction is observed at later times with no surviving mutants by E10.5

embryo

pharyngeal arch hypoplasia ( J:109474 )

• arches are hypoplastic at E9.5

cardiovascular system

absent cardiac outflow tract ( J:109474 )

• presumptive outflow tract (OT) is almost completely absent at E9.5; only a small segment of myocardium joins left ventricle to aortic sac

abnormal heart tube morphology ( J:109474 )

• at E9.5, heart tube is severely truncated

dilated heart atrium ( J:109474 )

• both atria are slightly dilated at E9.5

dilated heart left ventricle ( J:109474 )

• slightly at E9.5

absent heart right ventricle ( J:109474 )

• almost completely absent at E9.5

craniofacial

pharyngeal arch hypoplasia ( J:109474 )

• arches are hypoplastic at E9.5

Allelic Composition	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tbx1^{tm4(cre/Esr1*)Bld}/Tbx1⁺
Genetic Background	involves: 129P2/OlaHsd * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.3Mrt mutation (1 available); any Fgf8 mutation (21 available)
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)
Tbx1^{tm4(cre/Esr1*)Bld} mutation (1 available); any Tbx1 mutation (36 available)

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

cardiovascular system

abnormal aortic arch morphology ( J:110620 )

• defects are seen in 81, 88, and 89% of fetuses at E18.5 when tamoxifen is administered at E7.5, 8.5 or 9.5 respectively

Allelic Composition	Fgf8^tm1.4Mrt/Fgf8⁺ Tbx1^{tm4(cre/Esr1*)Bld}/Tbx1⁺
Genetic Background	involves: 129P2/OlaHsd * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)
Tbx1^{tm4(cre/Esr1*)Bld} mutation (1 available); any Tbx1 mutation (36 available)

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

cardiovascular system

abnormal aortic arch morphology ( J:110620 )

• defects are seen in 78% of fetuses at E18.5 when tamoxifen is administered at E8.5

Allelic Composition	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tg(Tnnt2-cre)5Blh/0
Genetic Background	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * DBA/2

Find Mice

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

cardiovascular system

cardiovascular system phenotype ( J:109474 )

N	• no outflow tract or right ventricle defects are observed at E10.5 and no outflow tract septation defects are seen in term fetuses

Allelic Composition	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tg(T-cre)1Lwd/0
Genetic Background	involves: 129P2/OlaHsd * C3H * C57BL/6 * CD-1

Find Mice

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

mortality/aging

neonatal lethality, complete penetrance ( J:101175 )

• mutants die shortly after birth

renal/urinary system

increased kidney apoptosis ( J:101175 )

• apoptosis is increased at E14.5 most prominently in the cortical mesenchyme and at E16.5 in the primitive epithelia

absent renal glomerulus ( J:101175 )

• no glomeruli are present at any stage of kidney development

abnormal kidney development ( J:101175 )

• at E14.5 mutant kidneys show only condensation and renal vesicle formation and not tubulogenesis or glomerulogenesis that are seen in wild-type mice

• at E16.5 evidence of cap formation is mostly missing and few vesicles remain in the mutant kidneys and those remaining vesicles do not show signs of tubulogenesis

• at E18.5 the hypocellular kidney is largely devoid of nephron epithelia

• apoptosis is increased at E14.5 most prominently in the cortical mesenchyme and at E16.5 in the primitive epithelia

abnormal ureteric bud morphology ( J:101175 )

• at E18.5 the few remaining ureteric bud radii fail to bifurcate in the cortical nephrogenic region; however, somite formation, tendon progenitor populations fro E10.5 - E14.5, and limb bud induction are normal

impaired branching involved in ureteric bud morphogenesis ( J:101175 )

• at E14.5 ureteric bud branching is dramatically reduced

kidney failure ( J:101175 )

limbs/digits/tail

hindlimb oligodactyly ( J:101175 )

• most mutants lack at least one hindlimb digit; however, limb bud induction is normal

skeleton

skeleton phenotype ( J:101175 )

N	• no defects are seen in skeletal development including rib formation

cellular

increased kidney apoptosis ( J:101175 )

• apoptosis is increased at E14.5 most prominently in the cortical mesenchyme and at E16.5 in the primitive epithelia

Allelic Composition	Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt Tg(Msx2-cre)5Rem/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * CBA * CD-1 * FVB/N

Find Mice

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

limbs/digits/tail

oligodactyly ( J:104411 )

• forelimbs missing digit II or III

• hindlimb missing digit I

• forelimb digits I and V missing phalanges

• hindlimb digits II and V missing phalanges

abnormal forelimb stylopod morphology ( J:104411 )

• mildly hypoplastic

absent deltoid tuberosity ( J:104411 )

• deltoid tuberosity missing

abnormal forelimb zeugopod morphology ( J:66266 , J:104411 )

• zeugopod elements are mildly hypoplastic (J:66266)

absent radius ( J:66266 )

• radius is always absent in mutants

abnormal hindlimb stylopod morphology ( J:66266 , J:104411 )

• stylopod is severely reduced in hindlimbs (11/19 bilaterally, 4/19 unilaterally) but only mildly affected in forelimbs (J:66266)

abnormal hindlimb zeugopod morphology ( J:66266 , J:104411 )

• zeugopod elements are mildly hypoplastic (J:66266)

abnormal limb development ( J:104411 )

small limb buds ( J:66266 )

• limb buds are reduced in size detected at ~E10.25

abnormal digit development ( J:66266 )

• digit I is missing in hindlimbs (13/19 bilaterally, 5/19 unilaterally) and digit II or III is missing in the forelimbs (12/19 bilaterally, 5/19 unilaterally)

skeleton

absent deltoid tuberosity ( J:104411 )

• deltoid tuberosity missing

absent radius ( J:66266 )

• radius is always absent in mutants

embryo

small limb buds ( J:66266 )

• limb buds are reduced in size detected at ~E10.25

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tetralogy of Fallot		DOID:6419	OMIM:187500	J:66266

Allelic Composition	Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt Fgf8^tm1.4Mrt/Fgf8⁺
Genetic Background	B6.129-Gbx2^tm1.1Mrt Fgf8^tm1.4Mrt

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)
Gbx2^tm1.1Mrt mutation (0 available); any Gbx2 mutation (27 available)

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

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:100584 )

• mutant mice exhibit a significantly increased frequency, but not severity, of PAA-related cardiovascular defects relative to single Gbx2^tm1Mrt homozygotes (86% vs 39%, respectively)

• however, no incidences of a double outlet right ventricle or an overriding aorta are observed

retroesophageal right subclavian artery ( J:100584 )

• 16.6% of mutant mice with cardiovascular defects exhibit a retroesophageal right subclavian artery vs 21% of single Gbx2^tm1Mrt homozygotes

interrupted aortic arch, type b ( J:100584 )

• 25% of mutant mice with cardiovascular defects exhibit an interrupted aortic arch (IAA) type B vs 26% of single Gbx2^tm1Mrt homozygotes

right aortic arch ( J:100584 )

• 58.3% of mutant mice with cardiovascular defects exhibit a right aortic arch (RAA) vs 37% of single Gbx2^tm1Mrt homozygotes

hematopoietic system

abnormal thymus development ( J:100584 )

• ~29% of mutant mice exhibit abnormal thymus development, either as a single-lobed thymus or as an overall reduction in thymus size (not observed in single Gbx2^tm1Mrt homozygotes or Fgf8^tm1.4Mrt heterozygotes)

immune system

abnormal thymus development ( J:100584 )

craniofacial

abnormal pharyngeal arch artery morphology ( J:100584 )

• mutant mice exhibit a significantly increased frequency, but not severity, of PAA-related cardiovascular defects relative to single Gbx2^tm1Mrt homozygotes (86% vs 39%, respectively)

• however, no incidences of a double outlet right ventricle or an overriding aorta are observed

small mandible ( J:100584 )

• a few mutant mice display a reduced mandible

small ears ( J:100584 )

• a few mutant mice exhibit small external ears

hearing/vestibular/ear

small ears ( J:100584 )

• a few mutant mice exhibit small external ears

skeleton

small mandible ( J:100584 )

• a few mutant mice display a reduced mandible

embryo

abnormal pharyngeal arch artery morphology ( J:100584 )

• mutant mice exhibit a significantly increased frequency, but not severity, of PAA-related cardiovascular defects relative to single Gbx2^tm1Mrt homozygotes (86% vs 39%, respectively)

• however, no incidences of a double outlet right ventricle or an overriding aorta are observed

abnormal neural crest cell migration ( J:100584 )

• at E9.5, mutant mice display a NCC migratory patterning defect similar to that of single Gbx2^tm1Mrt homozygotes

cellular

abnormal neural crest cell migration ( J:100584 )

• at E9.5, mutant mice display a NCC migratory patterning defect similar to that of single Gbx2^tm1Mrt homozygotes

endocrine/exocrine glands

abnormal thymus development ( J:100584 )

growth/size/body

small ears ( J:100584 )

• a few mutant mice exhibit small external ears

Allelic Composition	Gbx2^tm1.1Mrt/Gbx2⁺ Fgf8^tm1.4Mrt/Fgf8⁺
Genetic Background	B6.129-Gbx2^tm1.1Mrt Fgf8^tm1.4Mrt

Find Mice

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

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:100584 )

• ~16% of double heterozygotes exhibit PAA-related cardiovascular defects vs 0% in single Gbx2^tm1Mrt or Fgf8^tm1.4Mrt heterozygotes

• however, no incidences of a double outlet right ventricle, an overriding aorta or a retroesophageal right subclavian artery are observed

retroesophageal right subclavian artery ( J:100584 )

• 20% of double heterozygotes with cardiovascular defects display a retroesophageal right subclavian artery

right aortic arch ( J:100584 )

• 80% of double heterozygotes with cardiovascular defects exhibit a right aortic arch

craniofacial

abnormal pharyngeal arch artery morphology ( J:100584 )

• ~16% of double heterozygotes exhibit PAA-related cardiovascular defects vs 0% in single Gbx2^tm1Mrt or Fgf8^tm1.4Mrt heterozygotes

• however, no incidences of a double outlet right ventricle, an overriding aorta or a retroesophageal right subclavian artery are observed

embryo

abnormal pharyngeal arch artery morphology ( J:100584 )

• ~16% of double heterozygotes exhibit PAA-related cardiovascular defects vs 0% in single Gbx2^tm1Mrt or Fgf8^tm1.4Mrt heterozygotes

• however, no incidences of a double outlet right ventricle, an overriding aorta or a retroesophageal right subclavian artery are observed

Allelic Composition	Del(19Poll-Fbxw4)4Fsp/+ Fgf8^tm1.4Mrt/Fgf8⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(19Poll-Fbxw4)4Fsp mutation (0 available); any Del(19Poll-Fbxw4)4Fsp mutation (0 available)
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:196292 )

• despite expected Mendelian ratios at E9.5 to E10.5, fewer than expected mice are present at E18.5

nervous system

abnormal brain morphology ( J:196292 )

• at E9.5 to E10.5

abnormal brain development ( J:196292 )

• deletion of midbrain/cerebellum structures

absent olfactory bulb ( J:196292 )

limbs/digits/tail

absent forelimb ( J:196292 )

absent hindlimb ( J:196292 )

short limbs ( J:196292 )

• at E9.5 to E10.5

renal/urinary system

absent kidney ( J:196292 )

craniofacial

abnormal craniofacial morphology ( J:196292 )

• strong

embryo

embryonic growth retardation ( J:196292 )

• at E9.5 to E10.5

growth/size/body

embryonic growth retardation ( J:196292 )

• at E9.5 to E10.5

Allelic Composition	Fgf8^tm1.4Mrt/Fgf8⁺ Tfap2a^tm1Will/Tfap2a^tm2.1Will
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)
Tfap2a^tm1Will mutation (0 available); any Tfap2a mutation (39 available)
Tfap2a^tm2.1Will mutation (0 available); any Tfap2a mutation (39 available)

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

craniofacial

abnormal nasal pit morphology ( J:217408 )

• the nasal pits are somewhat larger and are angled slightly downwards toward the maxilla

abnormal midface morphology ( J:217408 )

• slight widening of the midface

cleft primary palate ( J:217408 )

• 8 of 18 mice exhibit a unilateral premaxillary fusion defect resulting in a unilateral cleft primary palate

unilateral cleft palate ( J:217408 )

digestive/alimentary system

cleft primary palate ( J:217408 )

• 8 of 18 mice exhibit a unilateral premaxillary fusion defect resulting in a unilateral cleft primary palate

unilateral cleft palate ( J:217408 )

growth/size/body

abnormal midface morphology ( J:217408 )

• slight widening of the midface

cleft primary palate ( J:217408 )

• 8 of 18 mice exhibit a unilateral premaxillary fusion defect resulting in a unilateral cleft primary palate

unilateral cleft palate ( J:217408 )

respiratory system

abnormal nasal pit morphology ( J:217408 )

• the nasal pits are somewhat larger and are angled slightly downwards toward the maxilla

Allelic Composition	Fgf8^tm1.4Mrt/Fgf8⁺ Fgf17^tm1Dor/Fgf17^tm1Dor
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf17^tm1Dor mutation (1 available); any Fgf17 mutation (35 available)
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)

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

nervous system

decreased inferior colliculus size ( J:61429 )

• tissue losses in inferior colliculus

abnormal Purkinje cell morphology ( J:61429 )

• Purkinje cell migration begins earlier than normal

abnormal cerebellum vermis morphology ( J:61429 )

• overall size of vermis about 76% of control size but hemispheres normal

• decreased cell proliferation in vermis by E11.5

• neuroepithelium thinner than normal

abnormal cerebellum anterior vermis morphology ( J:61429 )

• lobe III of the vermis is lost by age 2 days and in adults

behavior/neurological

abnormal gait ( J:61429 )

• asymmetrical gait seen in about 20% of mice

Allelic Composition	Fgf8^tm1.4Mrt/Fgf8⁺ Gli3^tm1.1Alj/Gli3^tm1.1Alj
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)
Gli3^tm1.1Alj mutation (0 available); any Gli3 mutation (81 available)

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

nervous system

nervous system phenotype ( J:137136 )

N	• cerebellum has begun to foliate at birth • granule layer extends along the anterior posterior length of the cerebellum • isthmus is formed • Purkinje cells are normal

absent inferior colliculus ( J:137136 )

• not clearly distinguishable

enlarged tectum ( J:137136 )

Allelic Composition	Fgf8^tm1.4Mrt/Fgf8⁺ Tbx1^tm1Bld/Tbx1⁺
Genetic Background	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6 * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1.4Mrt mutation (0 available); any Fgf8 mutation (21 available)
Tbx1^tm1Bld mutation (1 available); any Tbx1 mutation (36 available)

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

cardiovascular system

abnormal fourth pharyngeal arch artery morphology ( J:78686 )

• all aortic arch patterning defects observed at E18.5 are attributable to a failure of the fourth pharyngeal arch artery (PAA) development evident at E10.5; the third and sixth PAAs appear normal

• the number of arteries scored as non-patent to ink (i.e. 'absent' fourth PAA) are significantly higher in double heterozygotes than in embryos heterozygous for Tbx1^tm1Bld alone

abnormal aortic arch morphology ( J:78686 )

abnormal aortic arch development ( J:78686 )

• at E18.5, 18 out of 36 (50%) of double heterozygotes exhibit aortic arch patterning defects vs 27% of mice heterozygous for Tbx1^tm1Bld alone

cervical aortic arch ( J:78686 )

• three show A-RSA associated with a cervical aortic arch

interrupted aortic arch, type b ( J:78686 )

• eight of these 18 double heterozygotes exhibit interruption of the aortic arch type B (IAA-B, occurring between the left common carotid artery and the left subclavian artery) associated with a right aortic arch (RAA)

right aortic arch ( J:78686 )

immune system

thymus hypoplasia ( J:78686 )

• at E18.5, 14 of 30 double heterozygotes exhibit thymic hypoplasia and/or lobe asymmetry

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:78686 )

• all aortic arch patterning defects observed at E18.5 are attributable to a failure of the fourth pharyngeal arch artery (PAA) development evident at E10.5; the third and sixth PAAs appear normal

• the number of arteries scored as non-patent to ink (i.e. 'absent' fourth PAA) are significantly higher in double heterozygotes than in embryos heterozygous for Tbx1^tm1Bld alone

embryo

abnormal fourth pharyngeal arch artery morphology ( J:78686 )

• all aortic arch patterning defects observed at E18.5 are attributable to a failure of the fourth pharyngeal arch artery (PAA) development evident at E10.5; the third and sixth PAAs appear normal

• the number of arteries scored as non-patent to ink (i.e. 'absent' fourth PAA) are significantly higher in double heterozygotes than in embryos heterozygous for Tbx1^tm1Bld alone

hematopoietic system

thymus hypoplasia ( J:78686 )

• at E18.5, 14 of 30 double heterozygotes exhibit thymic hypoplasia and/or lobe asymmetry

endocrine/exocrine glands

thymus hypoplasia ( J:78686 )

• at E18.5, 14 of 30 double heterozygotes exhibit thymic hypoplasia and/or lobe asymmetry

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