Phenotypes Associated with This Genotype

Genotype
MGI:3693366

• Allelic Composition: Gata3^tm1Gsv/Gata3⁺
• Genetic Background: FVB.129(B6)-Gata3^tm1Gsv

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

hearing/vestibular/ear

abnormal cochlear outer hair cell morphology ( J:104653 )

• at 1 month, heterozygotes show increased vacuolization of OHCs that otherwise appear normal

• irregularly shaped vacuoles are present throughout OHCs, whereas when present in wild-type, they are primarily found in the apical region

• at 1 month, heterozygotes exhibit an increased number of vacuoles only in the first OHC row

• by 2 months, heterozygotes show an increased number of vacuoles in all three OHC rows in apical regions, with no significant differences in mid-cochlear regions relative to wild-type mice

• however, no signs of OHC apoptosis i.e. pyknotic nuclei or abnormal mitochondria are observed

cochlear outer hair cell degeneration ( J:104653 )

• at 1 month of age, heterozygotes exhibit an earlier and significantly greater progressive loss of apical cochlear OHCs relative to wild-type mice, with comparable OHC loss noted in the basal turn

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

absent distortion product otoacoustic emissions ( J:104653 )

• at 1-7 months, heterozygotes exhibit rapid deteropration of signal-to-noise ratios of distortion product otoacoustic emissions (DPOAEs)

• by 7 months, signal-to-noise ratios of DPOAEs are essentially equivalent to zero dB, indicating OHC dysfunction

nervous system

abnormal cochlear outer hair cell morphology ( J:104653 )

• at 1 month, heterozygotes show increased vacuolization of OHCs that otherwise appear normal

• irregularly shaped vacuoles are present throughout OHCs, whereas when present in wild-type, they are primarily found in the apical region

• at 1 month, heterozygotes exhibit an increased number of vacuoles only in the first OHC row

• by 2 months, heterozygotes show an increased number of vacuoles in all three OHC rows in apical regions, with no significant differences in mid-cochlear regions relative to wild-type mice

• however, no signs of OHC apoptosis i.e. pyknotic nuclei or abnormal mitochondria are observed

cochlear outer hair cell degeneration ( J:104653 )

• at 1 month of age, heterozygotes exhibit an earlier and significantly greater progressive loss of apical cochlear OHCs relative to wild-type mice, with comparable OHC loss noted in the basal turn

• by 9 months, nearly all mutant OHCs are lost, while wild-type OHCs are still 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:104653