Phenotypes Associated with This Genotype

Genotype
MGI:3693614

• Allelic Composition: Gata3^tm1Gsv/Gata3⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB/N

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

hearing/vestibular/ear

cochlear hair cell degeneration ( J:116235 )

• at 2, 9, and 15 months, heterozygotes show an earlier and greater loss of OHCs, IHCs, and nerve fibers than wild-type mice

• HC loss initiates at the apex and ultimately progresses into the sensory epithelia in middle cochlear turns

cochlear inner hair cell degeneration ( J:116235 )

• by 9 months, heterozygotes show significant IHC loss at both the apical and basal turns of the cochlea

cochlear outer hair cell degeneration ( J:116235 )

• at 1 month, heterozygotes show partial but progressive loss of OHCs and, to a lesser extent, of their auditory nerve fibers at the apex

• at 2 months, only remnants of the three OHC rows are detected

• by 9 months, all mutant OHCs are lost, while wild-type OHCs are only affected at the base of the cochlea

pillar cell degeneration ( J:116235 )

• at 2, 9, and 15 months, heterozygotes show an earlier and greater loss of pillar cells than wild-type mice

• by 15 months, pillar cells are almost completely lost

degeneration of organ of Corti supporting cells ( J:116235 )

• by 15 months, supporting cells of the organ of Corti are almost completely degenerated

organ of Corti degeneration ( J:116235 )

• by 15 months, the heterozygous organ of Corti is almost completely degenerated

increased or absent threshold for auditory brainstem response ( J:116235 )

• at 1-19 months, alert heterozygotes exhibit a significant ABR threshold elevation of ~30 dB at virtually all frequencies (4, 8, 16 and 32 kHz) and all ages tested

• at stimulus levels of 80 SPL or higher that are at least 30 dB above threshold levels, heterozygotes show no differences in ABR peak I-V latencies, corrected for tonotopic effects, relative to wild-type mice

• interpeak latencies are shorterned by ~0.3 ms during the first 100 days in both wild-type and mutant mice

• neither physiological nor morphological abnormalities are detected in the brainstem, cerebral cortex, the outer or the middle ear

sensorineural hearing loss ( J:116235 )

• at 1-19 months, heterozygotes display sensorineural hearing loss of peripheral origin, similar to HDR patients

nervous system

cochlear hair cell degeneration ( J:116235 )

• at 2, 9, and 15 months, heterozygotes show an earlier and greater loss of OHCs, IHCs, and nerve fibers than wild-type mice

• HC loss initiates at the apex and ultimately progresses into the sensory epithelia in middle cochlear turns

cochlear inner hair cell degeneration ( J:116235 )

• by 9 months, heterozygotes show significant IHC loss at both the apical and basal turns of the cochlea

cochlear outer hair cell degeneration ( J:116235 )

• at 1 month, heterozygotes show partial but progressive loss of OHCs and, to a lesser extent, of their auditory nerve fibers at the apex

• at 2 months, only remnants of the three OHC rows are detected

• by 9 months, all mutant OHCs are lost, while wild-type OHCs are only affected at the base of the cochlea

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypoparathyroidism-deafness-renal disease syndrome		DOID:0060878	OMIM:146255	J:116235