Phenotypes associated with this allele

• Allele Symbol: Foxi3^em1Ybz
• Allele Name: endonuclease-mediated mutation 1, Yong-Biao Zhang
• Allele ID: MGI:7493416
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Foxi3^em1Ybz/Foxi3^em1Ybz	C57BL/6-Foxi3^em1Ybz	MGI:7493642

Genotype
MGI:7493642

hm1

• Allelic Composition: Foxi3^em1Ybz/Foxi3^em1Ybz
• Genetic Background: C57BL/6-Foxi3^em1Ybz

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

mortality/aging

neonatal lethality, complete penetrance ( J:336768 )

• mice die immediately after birth

growth/size/body

decreased mouth size ( J:336768 )

• all neonates show asymmetric microstomia

cleft palate ( J:336768 )

• 50% of neonates show cleft palate

absent outer ear ( J:336768 )

• mice show complete absence of the external ear, replaced by small pre-auricular tags

small ears ( J:336768 )

• the pinna vary from severe (grade 4) to grade 2 microtia

• auricular size ranges between 35 and 70% of wild-type

decreased birth body size ( J:336768 )

• birth length is decreased

decreased birth weight ( J:336768 )

craniofacial

abnormal cranium morphology ( J:336768 )

• all neonates show asymmetry of the skull

abnormal neurocranium morphology ( J:336768 )

• P0 mice show a hyperplastic bone between the unfused frontal bones

pterygoid bone hypoplasia ( J:336768 )

• hypoplasia of the lateral pterygoids of the basisphenoid

abnormal temporal bone morphology ( J:336768 )

• poorly developed squamosal bone

abnormal retrotympanic process morphology ( J:336768 )

• absent or severely hypoplastic retrotympanic process and tympanic ring

abnormal mandible morphology ( J:336768 )

• mice exhibit an underdeveloped mandible and a partially truncated mandible

syngnathia ( J:336768 )

• neonates show fusion of the upper and lower jaws

• a row of whisker follicles on the mandible is evident in 1 in 4 neonates, suggesting that syngnathia is a result of a partial mandibular to maxilla transformation

abnormal zygomatic bone morphology ( J:336768 )

• poorly developed jugal bone

absent incus ( J:336768 )

absent malleus ( J:336768 )

abnormal stapes morphology ( J:336768 )

• the stapes are partially developed in neonates

craniofacial asymmetry ( J:336768 )

• mice show asymmetric craniofacial defects

decreased mouth size ( J:336768 )

• all neonates show asymmetric microstomia

cleft palate ( J:336768 )

• 50% of neonates show cleft palate

absent outer ear ( J:336768 )

• mice show complete absence of the external ear, replaced by small pre-auricular tags

small ears ( J:336768 )

• the pinna vary from severe (grade 4) to grade 2 microtia

• auricular size ranges between 35 and 70% of wild-type

digestive/alimentary system

cleft palate ( J:336768 )

• 50% of neonates show cleft palate

hearing/vestibular/ear

absent incus ( J:336768 )

absent malleus ( J:336768 )

abnormal stapes morphology ( J:336768 )

• the stapes are partially developed in neonates

absent outer ear ( J:336768 )

• mice show complete absence of the external ear, replaced by small pre-auricular tags

small ears ( J:336768 )

• the pinna vary from severe (grade 4) to grade 2 microtia

• auricular size ranges between 35 and 70% of wild-type

absent tympanic ring ( J:336768 )

skeleton

abnormal cranium morphology ( J:336768 )

• all neonates show asymmetry of the skull

abnormal neurocranium morphology ( J:336768 )

• P0 mice show a hyperplastic bone between the unfused frontal bones

pterygoid bone hypoplasia ( J:336768 )

• hypoplasia of the lateral pterygoids of the basisphenoid

abnormal temporal bone morphology ( J:336768 )

• poorly developed squamosal bone

abnormal retrotympanic process morphology ( J:336768 )

• absent or severely hypoplastic retrotympanic process and tympanic ring

abnormal mandible morphology ( J:336768 )

• mice exhibit an underdeveloped mandible and a partially truncated mandible

syngnathia ( J:336768 )

• neonates show fusion of the upper and lower jaws

• a row of whisker follicles on the mandible is evident in 1 in 4 neonates, suggesting that syngnathia is a result of a partial mandibular to maxilla transformation

abnormal zygomatic bone morphology ( J:336768 )

• poorly developed jugal bone

absent incus ( J:336768 )

absent malleus ( J:336768 )

abnormal stapes morphology ( J:336768 )

• the stapes are partially developed in neonates

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Goldenhar syndrome		DOID:2907	OMIM:164210	J:336768