All Phenotypes Tfap2a<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Tfap2a⁺
wild type
MGI:2176692

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Tfap2a^tm1Jae/Tfap2a⁺	involves: 129P/Ola * 129S4/SvJae	MGI:3046784
ht2	Tfap2a^tm1Will/Tfap2a⁺	involves: Black Swiss	MGI:2176693
ht3	Tfap2a^Mhdador/Tfap2a⁺	involves: C3HeB/FeJ	MGI:3045466
cn4	Chd7^Gt(XK403)Byg/Chd7⁺ Tfap2a^tm1(cre)Moon/Tfap2a⁺	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CD-1)	MGI:4410362
cn5	Tbx1^tm2.1Bem/Tbx1⁺ Tfap2a^tm1(cre)Moon/Tfap2a⁺	either: (involves: 129/Sv * C57BL/6 * C57BL/6J * SJL) or (involves: 129/Sv * C57BL/6J * CBA * SJL)	MGI:4410369
cn6	Tbx1^tm1Bld/Tbx1^tm2.1Bem Tfap2a^tm1(cre)Moon/Tfap2a⁺	either: (involves: 129/Sv * C57BL/6 * SJL) or (involves: 129/Sv * C57BL/6J * CBA * SJL)	MGI:4410378
cn7	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺ Meis2^tm1.1Zkoz/Meis2^tm1.1Zkoz Tfap2a^tm1(cre)Moon/Tfap2a⁺	involves: 129 * C57BL/6J	MGI:5911951
cn8	Pknox1^tm1.1Xzh/Pknox1^tm1.1Xzh Tfap2a^tm1(cre)Moon/Tfap2a⁺	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6	MGI:5317873
cn9	Hoxb1^tm5Mrc/Hoxb1^tm7Mrc Tfap2a^tm1(cre)Moon/Tfap2a⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:3050415
cn10	Tfap2a^tm2Will/Tfap2a⁺ Tfap2c^tm1Will/Tfap2c^tm2Will Tg(Zp3-cre)3Mrt/0	involves: 129S1/Sv * FVB/N	MGI:3687953
cn11	Fgf8^tm1Mrc/Fgf8^tm2Mrc Tfap2a^tm1(cre)Moon/Tfap2a⁺	involves: 129/Sv * C57BL/6	MGI:2686873
cn12	Fgf8^tm1Mrc/Fgf8^tm1Moon Tfap2a^tm1(cre)Moon/Tfap2a⁺	involves: 129/Sv * C57BL/6	MGI:2686875

Allelic Composition	Tfap2a^tm1Jae/Tfap2a⁺
Genetic Background	involves: 129P/Ola * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfap2a^tm1Jae mutation (1 available); any Tfap2a mutation (39 available)

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

behavior/neurological

pup cannibalization ( J:76797 )

• exencephalic heterozygous pups are cannibalized by their mothers

craniofacial

abnormal cranium morphology ( J:76797 )

• up to 14% of heterozygotes exhibit a reduction in rostrocaudal dimensions of the skull

abnormal neurocranium morphology ( J:76797 )

• up to 14% of heterozygotes show abnormal formation of the bones of the cranial vault (either absent or hypoplastic)

small frontal bone ( J:76797 )

• in affected heterozygotes, only a small portion of the frontal bone is present

absent interparietal bone ( J:76797 )

• in affected heterozygotes, the interparietal bone is absent

absent parietal bone ( J:76797 )

• in affected heterozygotes, the parietal bone is absent

short mandible ( J:76797 )

short maxilla ( J:76797 )

absent nasal bone ( J:76797 )

• in the most severe cases, the nasal bone and cartilage were malformed or absent

small zygomatic bone ( J:76797 )

• in affected heterozygotes, the zygomatic bone is smaller relative to wild-type

abnormal middle ear ossicle morphology ( J:76797 )

• the cartilage and the ossicles of the middle ear are rotated but otherwise normal

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:76797 )

• the cartilage and the ossicles of the middle ear are rotated but otherwise normal

skeleton

skeleton phenotype ( J:76797 )

N	• heterozygotes show no defects in the axial skeleton

abnormal cranium morphology ( J:76797 )

• up to 14% of heterozygotes exhibit a reduction in rostrocaudal dimensions of the skull

abnormal neurocranium morphology ( J:76797 )

• up to 14% of heterozygotes show abnormal formation of the bones of the cranial vault (either absent or hypoplastic)

small frontal bone ( J:76797 )

• in affected heterozygotes, only a small portion of the frontal bone is present

absent interparietal bone ( J:76797 )

• in affected heterozygotes, the interparietal bone is absent

absent parietal bone ( J:76797 )

• in affected heterozygotes, the parietal bone is absent

short mandible ( J:76797 )

short maxilla ( J:76797 )

absent nasal bone ( J:76797 )

• in the most severe cases, the nasal bone and cartilage were malformed or absent

small zygomatic bone ( J:76797 )

• in affected heterozygotes, the zygomatic bone is smaller relative to wild-type

abnormal middle ear ossicle morphology ( J:76797 )

• the cartilage and the ossicles of the middle ear are rotated but otherwise normal

nervous system

open neural tube ( J:76797 )

• in the most severe cases, heterozygotes display an open neural tube from the frontonasal region to the otic vesicle, with proliferating neural tissue covering the eyes

exencephaly ( J:76797 )

• a subset of heterozygotes displays a midbrain exencephaly after the mutation is crossed for one generation into 129/Ola

• up to 14% of heterozygotes display a failure of the cranial neural folds to close

• at E9.5, the neural tube defects are variable, ranging from pure midbrain exencephaly to a forebrain/midbrain exencephaly

• notably, in heterozygotes, exencephaly is not associated with increased apoptosis or hypoplastic cranial ganglia

embryo

open neural tube ( J:76797 )

• in the most severe cases, heterozygotes display an open neural tube from the frontonasal region to the otic vesicle, with proliferating neural tissue covering the eyes

growth/size/body

absent nasal bone ( J:76797 )

• in the most severe cases, the nasal bone and cartilage were malformed or absent

respiratory system

absent nasal bone ( J:76797 )

• in the most severe cases, the nasal bone and cartilage were malformed or absent

Allelic Composition	Tfap2a^tm1Will/Tfap2a⁺
Genetic Background	involves: Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfap2a^tm1Will mutation (0 available); any Tfap2a mutation (39 available)

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:90701 )

N	• heterozygotes display normal response to sudden sounds (Preyer reflex) and normal middle ear bone morphology

Allelic Composition	Tfap2a^Mhdador/Tfap2a⁺
Genetic Background	involves: C3HeB/FeJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfap2a^Mhdador mutation (1 available); any Tfap2a mutation (39 available)

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

Typical malformations in Tfap2a^Mhdador/Tcfap2a⁺ ossicles

behavior/neurological

abnormal pinna reflex ( J:90701 )

• heterozygotes display a weak or absent ear flick response to sudden sound

absent pinna reflex ( J:90701 )

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:90701 )

• defects in the malleus, incus, and stapes occur with partial penetrance and occasional asymmetry

abnormal incus morphology ( J:90701 )

• the shape of the incus is distorted appearing longer than normal, the articulation with the malleus is flatter than normal, and the connection to the stapes is broad and tendon like rather than the normal ossified lenticular process

abnormal malleus morphology ( J:90701 )

• the malleus is narrower and the articulation with the incus is flatter than normal

abnormal stapes morphology ( J:90701 )

• the shape of the stapes is skewed and the connection to the incus is broad and tendon like rather than the normal ossified lenticular process

decreased cochlear nerve compound action potential ( J:90701 )

• compound action potential thresholds were increased by about 30 dB at age 5-6 weeks and 50 dB at 4-5 months compared to littermate controls

conductive hearing loss ( J:90701 )

skeleton

abnormal middle ear ossicle morphology ( J:90701 )

• defects in the malleus, incus, and stapes occur with partial penetrance and occasional asymmetry

abnormal incus morphology ( J:90701 )

abnormal malleus morphology ( J:90701 )

• the malleus is narrower and the articulation with the incus is flatter than normal

abnormal stapes morphology ( J:90701 )

• the shape of the stapes is skewed and the connection to the incus is broad and tendon like rather than the normal ossified lenticular process

nervous system

decreased cochlear nerve compound action potential ( J:90701 )

• compound action potential thresholds were increased by about 30 dB at age 5-6 weeks and 50 dB at 4-5 months compared to littermate controls

craniofacial

abnormal middle ear ossicle morphology ( J:90701 )

• defects in the malleus, incus, and stapes occur with partial penetrance and occasional asymmetry

abnormal incus morphology ( J:90701 )

abnormal malleus morphology ( J:90701 )

• the malleus is narrower and the articulation with the incus is flatter than normal

abnormal stapes morphology ( J:90701 )

• the shape of the stapes is skewed and the connection to the incus is broad and tendon like rather than the normal ossified lenticular process

Allelic Composition	Chd7^Gt(XK403)Byg/Chd7⁺ Tfap2a^tm1(cre)Moon/Tfap2a⁺
Genetic Background	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CD-1)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chd7^Gt(XK403)Byg mutation (0 available); any Chd7 mutation (134 available)
Tfap2a^tm1(cre)Moon mutation (1 available); any Tfap2a mutation (39 available)

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

Effects of Cre-mediated rescue of Chd7^Gt(XK403)Byg mutation on the arch artery phenotype at E10.5

embryo

embryo phenotype ( J:154590 )

N	• mice exhibit normal pharyngeal arch morphology

Allelic Composition	Tbx1^tm2.1Bem/Tbx1⁺ Tfap2a^tm1(cre)Moon/Tfap2a⁺
Genetic Background	either: (involves: 129/Sv * C57BL/6 * C57BL/6J * SJL) or (involves: 129/Sv * C57BL/6J * CBA * SJL)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1^tm2.1Bem mutation (0 available); any Tbx1 mutation (36 available)
Tfap2a^tm1(cre)Moon mutation (1 available); any Tfap2a mutation (39 available)

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

Fourth pharyngeal arch artery aplasia in Tbx1^tm2.1Bem/Tbx1⁺ Tfap2a^tm1(cre)Moon/Tfap2a⁺ mice

cardiovascular system

fourth pharyngeal arch artery hypoplasia ( J:154590 )

• at E10.5, 76% of mice exhibit hypoplasia of the fourth pharyngeal aortic arch

craniofacial

fourth pharyngeal arch artery hypoplasia ( J:154590 )

• at E10.5, 76% of mice exhibit hypoplasia of the fourth pharyngeal aortic arch

embryo

fourth pharyngeal arch artery hypoplasia ( J:154590 )

• at E10.5, 76% of mice exhibit hypoplasia of the fourth pharyngeal aortic arch

Allelic Composition	Tbx1^tm1Bld/Tbx1^tm2.1Bem Tfap2a^tm1(cre)Moon/Tfap2a⁺
Genetic Background	either: (involves: 129/Sv * C57BL/6 * SJL) or (involves: 129/Sv * C57BL/6J * CBA * SJL)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx1^tm1Bld mutation (1 available); any Tbx1 mutation (36 available)
Tbx1^tm2.1Bem mutation (0 available); any Tbx1 mutation (36 available)
Tfap2a^tm1(cre)Moon mutation (1 available); any Tfap2a mutation (39 available)

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

cardiovascular system

abnormal aortic arch morphology ( J:154590 )

• in 9 of 20 mice

aberrant origin of the right subclavian artery ( J:154590 )

• at E15.5, 11 of 20 mice exhibit aberrant right subclavian artery unlike wild-type mice

abnormal cardiac outflow tract development ( J:154590 )

• mice exhibit defects in the great vessels unlike wild-type mice

persistent truncus arteriosus ( J:154590 )

• one mouse exhibits truncus arteriosus communis unlike wild-type mice

ventricular septal defect ( J:154590 )

• at E15.5 in one mouse

• at E18.5 in one mouse

craniofacial

cleft palate ( J:154590 )

• in 9 of 20 mice

immune system

thymus hypoplasia ( J:154590 )

• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice

athymia ( J:154590 )

• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice

digestive/alimentary system

cleft palate ( J:154590 )

• in 9 of 20 mice

hematopoietic system

thymus hypoplasia ( J:154590 )

• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice

athymia ( J:154590 )

• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice

endocrine/exocrine glands

thymus hypoplasia ( J:154590 )

• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice

athymia ( J:154590 )

• 12 of 20 mice exhibit an absent or hypoplastic thymus unlike wild-type mice

growth/size/body

cleft palate ( J:154590 )

• in 9 of 20 mice

Allelic Composition	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺ Meis2^tm1.1Zkoz/Meis2^tm1.1Zkoz Tfap2a^tm1(cre)Moon/Tfap2a⁺
Genetic Background	involves: 129 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm1Sor mutation (10 available); any Gt(ROSA)26Sor mutation (1095 available)
Meis2^tm1.1Zkoz mutation (0 available); any Meis2 mutation (29 available)
Tfap2a^tm1(cre)Moon mutation (1 available); any Tfap2a mutation (39 available)

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

muscle

abnormal tongue muscle morphology ( J:229604 )

• disorganized tongue muscle fibers at E14

mortality/aging

neonatal lethality, complete penetrance ( J:229604 )

• die around the time of birth

cardiovascular system

abnormal cardiac neural crest cell morphology ( J:229604 )

• poor colonization of the outflow tract by cardiac neural crest cells at E10.5

abnormal cardiac outflow tract development ( J:229604 )

• poor colonization of the outflow tract by cardiac neural crest cells at E10.5

• at E11 the outflow tract has a lower density of cardiac neural crest cells and these cells are disorganized

• however, septation occurs normally

double outlet right ventricle ( J:229604 )

• in some embryos

abnormal heart valve morphology ( J:229604 )

• malformed outflow tract valves in 90% of mice at E12

nervous system

abnormal cardiac neural crest cell morphology ( J:229604 )

• poor colonization of the outflow tract by cardiac neural crest cells at E10.5

small trigeminal ganglion ( J:229604 )

• smaller and misshapen

abnormal facial nerve morphology ( J:229604 )

abnormal trigeminal nerve morphology ( J:229604 )

• less affected compared to germline null mice

abnormal vestibulocochlear nerve morphology ( J:229604 )

vision/eye

decreased cornea thickness ( J:229604 )

• at E17

failure of eyelid fusion ( J:229604 )

• fail to grow and close over the eye bulb at E17

skeleton

absent interparietal bone ( J:229604 )

abnormal parietal bone morphology ( J:229604 )

• boundary of ossification is abnormal

abnormal hyoid bone morphology ( J:229604 )

• severely malformed

abnormal mandible morphology ( J:229604 )

• poorly developed

short mandible ( J:229604 )

abnormal cartilage morphology ( J:229604 )

• severely malformed palatal cartilage in 33% of mice with less severe malformations in the remaining 67% of mice

• otic capsule cartilage is absent at E16 in 33% of mice and reduced in 66% of mice

hearing/vestibular/ear

abnormal otic capsule morphology ( J:229604 )

• cartilage is absent at E16 in 33% of mice and reduced in 66% of mice

craniofacial

absent interparietal bone ( J:229604 )

abnormal parietal bone morphology ( J:229604 )

• boundary of ossification is abnormal

abnormal hyoid bone morphology ( J:229604 )

• severely malformed

abnormal mandible morphology ( J:229604 )

• poorly developed

short mandible ( J:229604 )

abnormal palate morphology ( J:229604 )

• severely malformed cartilage in 33% of mice with less severe malformations in the remaining 67% of mice

abnormal tongue muscle morphology ( J:229604 )

• disorganized tongue muscle fibers at E14

decreased tongue size ( J:229604 )

• small tongue at E14

digestive/alimentary system

abnormal palate morphology ( J:229604 )

• severely malformed cartilage in 33% of mice with less severe malformations in the remaining 67% of mice

abnormal tongue muscle morphology ( J:229604 )

• disorganized tongue muscle fibers at E14

decreased tongue size ( J:229604 )

• small tongue at E14

growth/size/body

abnormal palate morphology ( J:229604 )

• severely malformed cartilage in 33% of mice with less severe malformations in the remaining 67% of mice

abnormal tongue muscle morphology ( J:229604 )

• disorganized tongue muscle fibers at E14

decreased tongue size ( J:229604 )

• small tongue at E14

embryo

abnormal cardiac neural crest cell morphology ( J:229604 )

• poor colonization of the outflow tract by cardiac neural crest cells at E10.5

Allelic Composition	Pknox1^tm1.1Xzh/Pknox1^tm1.1Xzh Tfap2a^tm1(cre)Moon/Tfap2a⁺
Genetic Background	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pknox1^tm1.1Xzh mutation (1 available); any Pknox1 mutation (90 available)
Tfap2a^tm1(cre)Moon mutation (1 available); any Tfap2a mutation (39 available)

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

vision/eye

vision/eye phenotype ( J:182769 )

N	• lens vesicle invagination is normal

Allelic Composition	Hoxb1^tm5Mrc/Hoxb1^tm7Mrc Tfap2a^tm1(cre)Moon/Tfap2a⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxb1^tm5Mrc mutation (0 available); any Hoxb1 mutation (24 available)
Hoxb1^tm7Mrc mutation (0 available); any Hoxb1 mutation (24 available)
Tfap2a^tm1(cre)Moon mutation (1 available); any Tfap2a mutation (39 available)

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

behavior/neurological

behavior/neurological phenotype ( J:91364 )

N	• no behavioral abnormalities are seen

nervous system

decreased motor neuron number ( J:91364 )

• the average number of motor neurons is significantly reduced in mutants compared to wild-type mice although not to the same extent as in compound heterozygous mutants carrying Tg(Wnt1-cre)11Rth

Allelic Composition	Tfap2a^tm2Will/Tfap2a⁺ Tfap2c^tm1Will/Tfap2c^tm2Will Tg(Zp3-cre)3Mrt/0
Genetic Background	involves: 129S1/Sv * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfap2a^tm2Will mutation (1 available); any Tfap2a mutation (39 available)
Tfap2c^tm1Will mutation (0 available); any Tfap2c mutation (26 available)
Tfap2c^tm2Will mutation (1 available); any Tfap2c mutation (26 available)
Tg(Zp3-cre)3Mrt mutation (2 available)

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

embryo

decreased embryo size ( J:113442 )

• embryos are smaller than wild-type, with morphology similar to published reports of Tcfap2c-null embryos

abnormal embryonic tissue morphology ( J:113442 )

• embryos are more disorganized than wild-type, with morphology similar to published report of Tcfap2c-null embryos

abnormal extraembryonic tissue morphology ( J:113442 )

• embryos are more disorganized than wild-type, with morphology similar to published report of Tcfap2c-null embryos

growth/size/body

decreased embryo size ( J:113442 )

• embryos are smaller than wild-type, with morphology similar to published reports of Tcfap2c-null embryos

Allelic Composition	Fgf8^tm1Mrc/Fgf8^tm2Mrc Tfap2a^tm1(cre)Moon/Tfap2a⁺
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1Mrc mutation (0 available); any Fgf8 mutation (21 available)
Fgf8^tm2Mrc mutation (0 available); any Fgf8 mutation (21 available)
Tfap2a^tm1(cre)Moon mutation (1 available); any Tfap2a mutation (39 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:87304 )

• those that survive to birth die postnatally due to lethal vascular defects in 30% and severe craniofacial defects in 100% of mutants

prenatal lethality, incomplete penetrance ( J:87304 )

• 25% die prior to birth

cardiovascular system

abnormal blood vessel morphology ( J:87304 )

• 30% show lethal vascular defects

abnormal pharyngeal arch artery morphology ( J:87304 )

abnormal fourth pharyngeal arch artery morphology ( J:87304 )

• 95% have abnormal fourth pharyngeal arch artery formation at E10.5

• migration and early differentiation of the 4th pharyngeal arch artery endothelial cells occurs normally but subsequent vascular organization fails such that at the 35-37 somite stage, endothelial cells remain disorganized and fail to form primitive vascular tubes, long after this vessel is patent and pericyte recruitment is under way in controls

absent fourth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

fourth pharyngeal arch artery hypoplasia ( J:87304 )

• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries

absent sixth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

enlarged third pharyngeal arch artery ( J:87304 )

• exhibit an abnormally large third pharyngeal arch artery

interrupted aortic arch, type b ( J:87304 )

• 30% of E18.5 mutants have interrupted aortic arch type B (IAAB)

right aortic arch ( J:87304 )

• 13% exhibit circumflex right aortic arch (RAA) or RAA with right ductus arteriosus

abnormal coronary artery morphology ( J:87304 )

• 46% exhibit coronary artery anomalies, in isolation or associated with other vascular defects

abnormal subclavian artery morphology ( J:87304 )

• subclavian artery anomalies

retroesophageal right subclavian artery ( J:87304 )

• 80% exhibit retroesophageal right subclavian artery or abnormal subclavian branching associated with other defects

craniofacial

abnormal craniofacial morphology ( J:87304 )

• 100% show severe craniofacial malformations

abnormal pharyngeal arch artery morphology ( J:87304 )

abnormal fourth pharyngeal arch artery morphology ( J:87304 )

• 95% have abnormal fourth pharyngeal arch artery formation at E10.5

absent fourth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

fourth pharyngeal arch artery hypoplasia ( J:87304 )

• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries

absent sixth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

enlarged third pharyngeal arch artery ( J:87304 )

• exhibit an abnormally large third pharyngeal arch artery

pharyngeal arch hypoplasia ( J:87304 )

• exhibit severe pharyngeal arch 1 hypoplasia and hypoplasia and fusion of the more caudal pharyngeal arches as early as E9.5

embryo

abnormal pharyngeal arch artery morphology ( J:87304 )

abnormal fourth pharyngeal arch artery morphology ( J:87304 )

• 95% have abnormal fourth pharyngeal arch artery formation at E10.5

absent fourth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

fourth pharyngeal arch artery hypoplasia ( J:87304 )

• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries

absent sixth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

enlarged third pharyngeal arch artery ( J:87304 )

• exhibit an abnormally large third pharyngeal arch artery

abnormal neural crest cell apoptosis ( J:87304 )

• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8

pharyngeal arch hypoplasia ( J:87304 )

• exhibit severe pharyngeal arch 1 hypoplasia and hypoplasia and fusion of the more caudal pharyngeal arches as early as E9.5

cellular

abnormal neural crest cell apoptosis ( J:87304 )

• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8

Allelic Composition	Fgf8^tm1Mrc/Fgf8^tm1Moon Tfap2a^tm1(cre)Moon/Tfap2a⁺
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgf8^tm1Moon mutation (1 available); any Fgf8 mutation (21 available)
Fgf8^tm1Mrc mutation (0 available); any Fgf8 mutation (21 available)
Tfap2a^tm1(cre)Moon mutation (1 available); any Tfap2a mutation (39 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:87304 )

• those that survive to birth die postnatally due to lethal vascular defects in 30% and severe craniofacial defects in 100% of mutants

prenatal lethality, incomplete penetrance ( J:87304 )

• 25% die prior to birth

cardiovascular system

abnormal blood vessel morphology ( J:87304 )

• 30% show lethal vascular defects, however outflow tract development is normal

abnormal pharyngeal arch artery morphology ( J:87304 )

abnormal fourth pharyngeal arch artery morphology ( J:87304 )

• 95% have abnormal fourth pharyngeal arch artery formation at E10.5

absent fourth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

fourth pharyngeal arch artery hypoplasia ( J:87304 )

• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries

absent sixth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

enlarged third pharyngeal arch artery ( J:87304 )

• exhibit an abnormally large third pharyngeal arch artery

interrupted aortic arch, type b ( J:87304 )

• 30% of E18.5 mutants have interrupted aortic arch type B (IAAB)

right aortic arch ( J:87304 )

• 13% exhibit circumflex right aortic arch (RAA) or RAA with right ductus arteriosus

abnormal coronary artery morphology ( J:87304 )

• 46% exhibit coronary artery anomalies, in isolation or associated with other vascular defects

abnormal subclavian artery morphology ( J:87304 )

• subclavian artery anomalies

retroesophageal right subclavian artery ( J:87304 )

• 80% exhibit retroesophageal right subclavian artery or abnormal subclavian branching associated with other defects

craniofacial

abnormal craniofacial morphology ( J:87304 )

• 100% show severe craniofacial malformations

abnormal pharyngeal arch artery morphology ( J:87304 )

abnormal fourth pharyngeal arch artery morphology ( J:87304 )

• 95% have abnormal fourth pharyngeal arch artery formation at E10.5

absent fourth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

fourth pharyngeal arch artery hypoplasia ( J:87304 )

• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries

absent sixth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

enlarged third pharyngeal arch artery ( J:87304 )

• exhibit an abnormally large third pharyngeal arch artery

pharyngeal arch hypoplasia ( J:87304 )

• exhibit severe pharyngeal arch 1 hypoplasia and hypoplasia and fusion of the more caudal pharyngeal arches as early as E9.5

embryo

abnormal pharyngeal arch artery morphology ( J:87304 )

abnormal fourth pharyngeal arch artery morphology ( J:87304 )

• 95% have abnormal fourth pharyngeal arch artery formation at E10.5

absent fourth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

fourth pharyngeal arch artery hypoplasia ( J:87304 )

• 12% show bilateral hypoplasia of the 4th pharyngeal arch arteries

absent sixth pharyngeal arch artery ( J:87304 )

• 33% display bilateral aplasia of the fourth and sixth pharyngeal arch arteries at E10.5

enlarged third pharyngeal arch artery ( J:87304 )

• exhibit an abnormally large third pharyngeal arch artery

abnormal neural crest cell apoptosis ( J:87304 )

• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8

pharyngeal arch hypoplasia ( J:87304 )

• exhibit severe pharyngeal arch 1 hypoplasia and hypoplasia and fusion of the more caudal pharyngeal arches as early as E9.5

cellular

abnormal neural crest cell apoptosis ( J:87304 )

• exhibit an increase in apoptosis of neural crest cells migrating from rhombomeres 6-8

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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