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Phenotypes Associated with This Genotype
Genotype
MGI:6446736
Allelic
Composition
Hgftm1Tbf/Hgftm1Tbf
Genetic
Background
B6.Cg-Hgftm1Tbf/Tbf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hgftm1Tbf mutation (0 available); any Hgf mutation (55 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• reduction in number of outer hair cells
• however, mice show normally developed and patterned cochlea
• outer hair cells show signs of degeneration with loss of outer hair cells by P90
• gradient of outer hair cell loss from apex to base with normal outer hair cell numbers in the apex and increasing hair cell loss from medial to basal turns of the cochlea at P30
• however, inner hair cell counts are normal at P15 and P30
• missing or pyknotic supporting cells in the inner ears
• general atrophy of the organ of Corti
• degeneration of the spiral ligament
• however, organ of Corti develops with all cell types present
• detached stria vascularis
• intermediate cells in the stria vascularis are deficient
• reduction in thickness and total strial area are seen at the base, mid-turn and apex of the cochlea
• mice show a reduction in endocochlear potential at P60
• mice show reduced distortion-product otoacoustic emissions (DPOAEs) at 8 weeks
• mice show profound hearing loss at 4 weeks of age which is unchanged at 8 and 25 weeks

nervous system
• reduction in number of outer hair cells
• however, mice show normally developed and patterned cochlea
• outer hair cells show signs of degeneration with loss of outer hair cells by P90
• gradient of outer hair cell loss from apex to base with normal outer hair cell numbers in the apex and increasing hair cell loss from medial to basal turns of the cochlea at P30
• however, inner hair cell counts are normal at P15 and P30

pigmentation
• intermediate cells in the stria vascularis are deficient

skeleton
• degeneration of the spiral ligament
• however, organ of Corti develops with all cell types present

behavior/neurological
N
• no circling or head-bobbing and normal vestibular function

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory