Phenotypes associated with this allele

• Allele Symbol: Gata3⁺
• Allele Name: wild type
• Allele ID: MGI:2176472
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gata3^jal/Gata3^+	C3H/HeJ-Gata3^jal/J	MGI:5432251
ht2	Gata3^tm2Gsv/Gata3^+	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S7/SvEvBrd * C57BL/6)	MGI:3695937
ht3	Gata3^tm1Gsv/Gata3^+	either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S7/SvEvBrd * C57BL/6)	MGI:3575665
ht4	Gata3^tm1Gsv/Gata3^+	FVB.129(B6)-Gata3^tm1Gsv	MGI:3693366
ht5	Gata3^tm1Jeng/Gata3^+	involves: 129S7/SvEvBrd	MGI:2176473
ht6	Gata3^tm1Gsv/Gata3^+	involves: 129S7/SvEvBrd * C57BL/6 * FVB/N	MGI:3693614
cn7	Gata3^tm1.1Gan/Gata3^+ Tg(Pax2-cre)1Akg/0	involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr	MGI:5518953

Genotype
MGI:5432251

ht1

• Allelic Composition: Gata3^jal/Gata3⁺
• Genetic Background: C3H/HeJ-Gata3^jal/J

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

integument

abnormal hair texture ( J:186383 )

• scanning electron microscopy shows focal distortions and breaks, but hairs are normal in appearance

Genotype
MGI:3695937

ht2

• Allelic Composition: Gata3^tm2Gsv/Gata3⁺
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S7/SvEvBrd * C57BL/6)

nervous system

abnormal axon guidance ( J:66227 )

• heterozygotes exhibit abnormal axonal navigation of the inner ear efferent neurons

abnormal sensory neuron innervation pattern ( J:66227 )

• heterozygotes display aberrant inner ear efferent axonal projections, such as projections of fibers through the facial branchial motor nerve root, and caudal extension of efferent axons along the floor plate midline into r5 and occasionally into r6, not seen in wild-type littermates

cellular

abnormal axon guidance ( J:66227 )

• heterozygotes exhibit abnormal axonal navigation of the inner ear efferent neurons

Genotype
MGI:3575665

ht3

• Allelic Composition: Gata3^tm1Gsv/Gata3⁺
• Genetic Background: either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129S7/SvEvBrd * C57BL/6)

nervous system

abnormal axon guidance ( J:66227 )

• heterozygotes exhibit abnormal axonal navigation of the inner ear efferent neurons

abnormal sensory neuron innervation pattern ( J:66227 )

• heterozygotes display aberrant inner ear efferent axonal projections, such as projections of fibers through the facial branchial motor nerve root, and caudal extension of efferent axons along the floor plate midline into r5 and occasionally into r6, not seen in wild-type littermates

cellular

abnormal axon guidance ( J:66227 )

• heterozygotes exhibit abnormal axonal navigation of the inner ear efferent neurons

Genotype
MGI:3693366

ht4

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

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

Genotype
MGI:2176473

ht5

• Allelic Composition: Gata3^tm1Jeng/Gata3⁺
• Genetic Background: involves: 129S7/SvEvBrd

normal phenotype

no abnormal phenotype detected ( J:28393 )

Genotype
MGI:3693614

ht6

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

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

Genotype
MGI:5518953

cn7

• Allelic Composition: Gata3^tm1.1Gan/Gata3⁺; Tg(Pax2-cre)1Akg/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6Ncr

growth/size/body

decreased body weight ( J:199588 )

• from P27