Phenotypes associated with this allele

• Allele Symbol: Hgf^tm1.1Tbf
• Allele Name: targeted mutation 1.1, Thomas B Friedman
• Allele ID: MGI:6294039
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hgf^tm1.1Tbf/Hgf^tm1.1Tbf	B6.Cg-Hgf^tm1.1Tbf/Tbf	MGI:6446738

Genotype
MGI:6446738

hm1

• Allelic Composition: Hgf^tm1.1Tbf/Hgf^tm1.1Tbf
• Genetic Background: B6.Cg-Hgf^tm1.1Tbf/Tbf

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

hearing/vestibular/ear

abnormal strial intermediate cell morphology ( J:289982 )

• marker analysis indicates a reduction in the number of neural crest-derived melanocytes that infiltrate the developing stria vascularis

thin stria vascularis ( J:289982 )

• reduction in thickness and total strial area are seen at the base, mid-turn and apex of the cochlea

decreased endocochlear potential ( J:289982 )

• mice show a reduction in endocochlear potential at P60

impaired hearing ( J:289982 )

• moderate-to-severe hearing loss at 4 weeks of age which is unchanged at 8 and 25 weeks

• however, distortion-product otoacoustic emissions (DPOAEs) are normal, indicating normal outer hair cell function

pigmentation

abnormal strial intermediate cell morphology ( J:289982 )

• marker analysis indicates a reduction in the number of neural crest-derived melanocytes that infiltrate the developing stria vascularis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 39		DOID:0110497	OMIM:608265	J:289982