Phenotypes associated with this allele

• Allele Symbol: Tfap2a^Mhdador
• Allele Name: Martin Hrabe de Angelis doarad
• Allele ID: MGI:3045427
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tfap2a^Mhdador/Tfap2a^Mhdador	involves: C3HeB/FeJ	MGI:3045465
ht2	Tfap2a^Mhdador/Tfap2a^+	involves: C3HeB/FeJ	MGI:3045466

Genotype
MGI:3045465

hm1

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

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

Ocular phenotype of the Tfap2a^Mhdador/Tfap2a^Mhdador mouse

mortality/aging

perinatal lethality, complete penetrance ( J:90701 )

• homozygous mutants die perinatally

craniofacial

narrow snout ( J:90701 )

short snout ( J:90701 )

• homozygous mutants have a short and narrow snout

vision/eye

abnormal iris morphology ( J:90701 )

• in 66% of mutants anterior eye structures derived from the distal optic cup (ciliary-body, iris, pigmented epithelium) fail to form and instead develop into neuroretina

abnormal lens morphology ( J:90701 )

• lens defects include decreased size, abnormal lens structure, and adhesion of the lens to the overlying ectoderm

small lens ( J:90701 )

• lens defects include decreased size

retina fold ( J:90701 )

• in some mutants the retina is folded

growth/size/body

narrow snout ( J:90701 )

short snout ( J:90701 )

• homozygous mutants have a short and narrow snout

Genotype
MGI:3045466

ht2

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

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 )

• 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

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 )

• 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