Phenotypes associated with this allele

• Allele Symbol: Hmx1^dmbo
• Allele Name: dumbo
• Allele ID: MGI:3807705
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hmx1^dmbo/Hmx1^dmbo	involves: C3HeB/FeJ * C57BL/6J	MGI:3838401

Genotype
MGI:3838401

hm1

• Allelic Composition: Hmx1^dmbo/Hmx1^dmbo
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

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

Ear and cranial malformations in Hmx1^dmbo/Hmx1^dmbo mice

mortality/aging

neonatal lethality, incomplete penetrance ( J:147782 )

perinatal lethality, incomplete penetrance ( J:147782 )

• 12 of 65 pups from heterozygote x homozygote crosses were found dead in the first 3 days post-partum and 11 of these 12 typed as homozygotes

• 7 of 24 pups from homozygous parents were born dead and 6 of these had exencephaly

craniofacial

craniofacial phenotype ( J:147782 )

N • the external acoustic meatus is normal in size and position

abnormal retrotympanic process morphology ( J:147782 )

• the retrotympanic process of the squamous temporal bone is enlarged and usually the deep concave notch that is normally dorsal to the retrotympanic process is instead smaller or deformed, in some instances forming two smaller notches

enlarged gonial bone ( J:147782 )

gonial bone hyperplasia ( J:147782 )

• homozygotes have hyperplasia of the gonial bone and in some cases the gonial bone extends rostrally to underlie the caudal border of the lamina obturans

abnormal ear position ( J:100332 )

• unusually large or abnormally oriented ear lobes

lowered ear position ( J:100332 )

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:147782 )

N • normal ABR and Preyer response to high frequency sound bursts in a click box test indicating normal hearing

enlarged gonial bone ( J:147782 )

gonial bone hyperplasia ( J:147782 )

• homozygotes have hyperplasia of the gonial bone and in some cases the gonial bone extends rostrally to underlie the caudal border of the lamina obturans

abnormal ear position ( J:100332 )

• unusually large or abnormally oriented ear lobes

lowered ear position ( J:100332 )

skeleton

skeleton phenotype ( J:147782 )

N • the proximal mandibular cartilage, calleus, tympanic ring, and other middle ear ossicles are normal

abnormal retrotympanic process morphology ( J:147782 )

• the retrotympanic process of the squamous temporal bone is enlarged and usually the deep concave notch that is normally dorsal to the retrotympanic process is instead smaller or deformed, in some instances forming two smaller notches

enlarged gonial bone ( J:147782 )

gonial bone hyperplasia ( J:147782 )

• homozygotes have hyperplasia of the gonial bone and in some cases the gonial bone extends rostrally to underlie the caudal border of the lamina obturans

growth/size/body

abnormal ear position ( J:100332 )

• unusually large or abnormally oriented ear lobes

lowered ear position ( J:100332 )

decreased body weight ( J:147782 )

• males weigh approximately 50% less than controls at 3 days of age and lag behind through 9 days of age while females are smaller to a lesser degree

nervous system

exencephaly ( J:147782 )

behavior/neurological

behavior/neurological phenotype ( J:147782 )

N • able to orient in water and swim normally

vision/eye

microphthalmia ( J:147782 )

• most homozygotes are microphthalmic

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
oculoauricular syndrome		DOID:0060482	OMIM:612109	J:147782