Phenotypes associated with this allele

• Allele Symbol: Slc25a13^hspn
• Allele Name: hyperspin
• Allele ID: MGI:5514275
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc25a13^hspn/Slc25a13^hspn	B6.SJL(C)-Slc25a13^hspn/Kjn	MGI:6113291

Genotype
MGI:6113291

hm1

• Allelic Composition: Slc25a13^hspn/Slc25a13^hspn
• Genetic Background: B6.SJL(C)-Slc25a13^hspn/Kjn

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

behavior/neurological

impaired swimming ( J:254776 )

• fail to orient in water

head shaking ( J:254776 )

circling ( J:254776 )

• rapid circling

nervous system

abnormal cochlear hair cell morphology ( J:254776 )

• at 4 weeks of age there are only occassional missing hair bundles throughout the basal and middle turns of the cochlea, but there is an additional 4th or sometimes 5th row of outer hair cells in the apical turn where there can also be abnomral orientation of hair bundles

hearing/vestibular/ear

abnormal inner ear morphology ( J:254776 )

• at 5 weeks of age the inner ears are small and malformed, the cochlea has fewer turns than normal and appears swollen, all 3 semicircular canals are either absent, smaller, or malformed

abnormal cochlea morphology ( J:254776 )

abnormal scala media morphology ( J:254776 )

abnormal cochlear hair cell morphology ( J:254776 )

• at 4 weeks of age there are only occassional missing hair bundles throughout the basal and middle turns of the cochlea, but there is an additional 4th or sometimes 5th row of outer hair cells in the apical turn where there can also be abnomral orientation of hair bundles

decreased cochlea coiling ( J:254776 )

abnormal semicircular canal morphology ( J:254776 )

• all 3 semicircular canals are either absent, reduced or malformed

abnormal lateral semicircular canal morphology ( J:254776 )

• absent in 6 of 7 embryos assessed at E15.5

abnormal posterior semicircular canal morphology ( J:254776 )

abnormal superior semicircular canal morphology ( J:254776 )

absent semicircular canals ( J:254776 )

absent utricle ( J:254776 )

• absent in 6 of 7 embryos at E15.5

absent endolymphatic duct ( J:254776 )

• embryonic day 15.5 absent in all of 7 embryos

absent endolymphatic sac ( J:254776 )

• embryonic day 15.5 absent in all of 7 embryos

increased or absent threshold for auditory brainstem response ( J:254776 )

• at 4 to 5 weeks of age no ABR wave patterns detectable for pure tone 8, 16, or 32 kHz even at 100 dB

deafness ( J:254776 )