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Phenotypes Associated with This Genotype
Genotype
MGI:5907531
Allelic
Composition		 Gfi1tm1(cre)Gan/Gfi1+
Rfx1tm1.1Wrth/Rfx1tm1.1Wrth
Rfx3tm2Wrth/Rfx3tm2Wrth
Genetic
Background		 involves: 129 * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfi1tm1(cre)Gan mutation (0 available); any Gfi1 mutation (32 available)
Rfx1tm1.1Wrth mutation (0 available); any Rfx1 mutation (44 available)
Rfx3tm2Wrth mutation (0 available); any Rfx3 mutation (68 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear
abnormal inner hair cell kinocilium morphology ( J:227631 )
• inner hair cells retain kinocilia at P15 unlike in wild-type cells where kinocilia are retracted by this time
decreased cochlear outer hair cell number ( J:227631 )
• widespread loss of outer hair cells by P15
cochlear inner hair cell degeneration ( J:227631 )
• progressive degeneration associated with sporadic fusion of stereocilia on some of the remaining bundles by P90
abnormal cochlear outer hair cell physiology ( J:227631 )
• increase in expression of pro-apoptotic factors in outer hair cells at P12 and P15
impaired hearing ( J:227631 )
• rapid progressive hearing loss beginning at P22 with no measurable hearing by 3 months of age
deafness ( J:227631 )
• no measurable hearing by 3 months of age

nervous system
abnormal inner hair cell kinocilium morphology ( J:227631 )
• inner hair cells retain kinocilia at P15 unlike in wild-type cells where kinocilia are retracted by this time
decreased cochlear outer hair cell number ( J:227631 )
• widespread loss of outer hair cells by P15
cochlear inner hair cell degeneration ( J:227631 )
• progressive degeneration associated with sporadic fusion of stereocilia on some of the remaining bundles by P90
abnormal cochlear outer hair cell physiology ( J:227631 )
• increase in expression of pro-apoptotic factors in outer hair cells at P12 and P15

cellular
abnormal inner hair cell kinocilium morphology ( J:227631 )
• inner hair cells retain kinocilia at P15 unlike in wild-type cells where kinocilia are retracted by this time
increased apoptosis ( J:227631 )
• increase in expression of pro-apoptotic factors in outer hair cells at P12 and P15

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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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory