Phenotypes Associated with This Genotype

Genotype
MGI:8233583

• Allelic Composition: Mpzl2^em1Shuy/Mpzl2^em1Shuy
• Genetic Background: involves: FVB/NJ

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

hearing/vestibular/ear

cochlear outer hair cell degeneration ( J:370428 )

• in the middle turn at 12 weeks of age

• however, no loss of inner hair cells or pillar cells is seen

Deiters cell degeneration ( J:370428 )

• at 12 weeks of age degeneration is seen in the apical, middle and basal turns

degeneration of organ of Corti supporting cells ( J:370428 )

• at 12 weeks of age

increased or absent threshold for auditory brainstem response ( J:370428 )

• at 4 weeks of age show a ~48-64 dB hearing impairment for both click stimuli and all pure-tone frequencies

• ABR thresholds are relatively stable from 4-12 weeks of age but deteriorate after 5 months of age, with more pronounce loss occurring at high frequencies

increased or absent distortion product otoacoustic emission threshold ( J:370428 )

• profound loss of cochlear amplification function at 824 kHz from 4 weeks to 7 months of age

impaired hearing ( J:370428 )

• at 4 weeks of age show a ~48-64 dB hearing impairment for both click stimuli and all pure-tone frequencies

nervous system

nervous system phenotype ( J:370428 )

N • no abnormalities are seen in the spiral ganglion and the number of ribbon synapses is similar to controls

cochlear outer hair cell degeneration ( J:370428 )

• in the middle turn at 12 weeks of age

• however, no loss of inner hair cells or pillar cells is seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 111		DOID:0111640	OMIM:618145	J:370428