Phenotypes associated with this allele

• Allele Symbol: Tbx1^nmf219
• Allele Name: neuroscience mutagenesis facility, 219
• Allele ID: MGI:3032517
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbx1^nmf219/Tbx1^nmf219	C57BL/6J-Tbx1^nmf219/J	MGI:3032724

Genotype
MGI:3032724

hm1

• Allelic Composition: Tbx1^nmf219/Tbx1^nmf219
• Genetic Background: C57BL/6J-Tbx1^nmf219/J

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

behavior/neurological

head bobbing ( J:87349 )

• observable by weaning age

circling ( J:87349 )

• observable by weaning age

cellular

abnormal organ of Corti supporting cell differentiation ( J:278988 )

hearing/vestibular/ear

abnormal cochlea morphology ( J:278988 )

• at 7 days of age the stria vascularis is undeveloped, scala media is reduced, and Reissner's membrane displaced; at 5 months of age the stria vascularis is still undeveloped, the scala media is extremely reduced, Reissner's membrane is completely collapsed and degeneration of the organ of Corti is found with loss of spral ganglion neurons

collapsed Reissner membrane ( J:278988 )

abnormal organ of Corti supporting cell morphology ( J:278988 )

• at 3 days of age histology of the cochlear duct shows that percursor epithelial cells fail to transform into mature marginal cells, which results in the undeveloped stria vascularis

abnormal organ of Corti supporting cell differentiation ( J:278988 )

organ of Corti degeneration ( J:278988 )

abnormal stria vascularis morphology ( J:278988 )

abnormal strial marginal cell morphology ( J:278988 )

• marginal cell gene expression is abnormal with secondary abnormal gene expression in intermediate and basal cells

absent strial marginal cells ( J:278988 )

small scala media ( J:278988 )

abnormal semicircular canal morphology ( J:278988 )

• although the saccule, utricle, anterior and lateral semicircular canals appear normal at E14.5 and E16.5 the posterior semicircular canal and common crus are fused and the posterior canal ampulla fails to form

abnormal common crus morphology ( J:278988 )

abnormal posterior semicircular canal morphology ( J:278988 )

abnormal semicircular canal ampulla morphology ( J:278988 )

• the anterior and lateral ampullae are fused by E14.5

abnormal auditory brainstem response ( J:87349 )

increased or absent threshold for auditory brainstem response ( J:278988 )

• no detectable ABR was found at 100 dB SPL for any of three auditory test frequencies, 8, 16, and 32 kHz, in seven homozygotes tested at 4-6 weeks of age

deafness ( J:87349 , J:278988 )

• two animals tested for auditory brainstem responses (ABR) at 6 weeks of age were found to be deaf (J:87349)

nervous system

cochlear ganglion degeneration ( J:278988 )