Mouse Genome Informatics
hm
    Hmx1dmbo/Hmx1dmbo
involves: C3HeB/FeJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Ear and cranial malformations in Hmx1dmbo/Hmx1dmbo mice

mortality/aging
• 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
N
• the external acoustic meatus is normal in size and position (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
• 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
• unusually large or abnormally oriented ear lobes

hearing/vestibular/ear
N
• normal ABR and Preyer response to high frequency sound bursts in a click box test indicating normal hearing (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
• unusually large or abnormally oriented ear lobes

skeleton
N
• the proximal mandibular cartilage, calleus, tympanic ring, and other middle ear ossicles are normal (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
• 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
• unusually large or abnormally oriented ear lobes
• 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

behavior/neurological
N
• able to orient in water and swim normally (J:147782)

vision/eye
• most homozygotes are microphthalmic

Mouse Models of Human Disease
OMIM IDRef(s)
Oculoauricular Syndrome 612109 J:147782