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Phenotypes Associated with This Genotype
Genotype
MGI:6386243
Allelic
Composition
Fscn2em1Fhan/Fscn2em1Fhan
Genetic
Background
C57BL/6J-Fscn2em1Fhan
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fscn2em1Fhan mutation (0 available); any Fscn2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hearing/vestibular/ear
• stereocilia are irregular at 3 weeks of age, are disrupted at 8 and 12 weeks of age, and are completely lost at 24 weeks of age
• stereocilia bundles are much less stiff at 8 and 12 weeks of age
• stereocilia bundles are much shorter at 8 and 12 weeks of age
• mice show progressive degeneration of hair cells in the cochlea, showing hair cell loss in the basal turns of the cochlea as early as 6 weeks of age, spreading to the middle and apical turns at 9 and 16 weeks of age, respectively, and showing more than 80% outer hair cell loss in the basal turns by 32 weeks of age and in the middle and apical turns at 40 weeks of age
• DPOAE indicates early progressive functional impairment of outer hair cells
• ABR thresholds increase with age from 3 to 24 weeks and reach a plateau of about 100 dB SPL at 32, 40, and 52 weeks of age at all stimulus frequencies
• ABR thresholds increase at stimulus frequencies of 16 and 32 kHz by 3 weeks of age, indicating early onset of hearing loss at high frequencies
• distortion produce otoacoustic emission (DPOAE) amplitudes at 3 weeks of age are lower at f2 frequencies from 8844 to 35,444 Hz, especially at 17,672 Hz, and decline rapidly and become negative at 6 weeks of age at f2 frequency of 17,672
• mice exhibit early onset of progressive hearing loss starting at 3 weeks of age and leading to near deafness at 24 weeks of age
• hearing impairment is more sensitive to pure tone stimuli at high frequencies than to those at low frequency

vision/eye
• the inner segments are thinner at 8, 16, and 24 weeks of age
• the outer segments are thinner at 8, 16, and 24 weeks of age
• the outer nuclear layer is thinner at 8, 16, and 24 weeks of age
• mice exhibit thinner retinas at 8, 16, and 24 weeks of age
• amplitude of dark-adapted a-waves in standard combined ERGs are lower or diminished at 4, 8, 12, and 24 weeks of age
• amplitude of dark-adapted b-waves in standard combined ERGs are lower or diminished at 4, 8, 12, and 24 weeks of age
• progressive vision impairment

nervous system
• stereocilia are irregular at 3 weeks of age, are disrupted at 8 and 12 weeks of age, and are completely lost at 24 weeks of age
• stereocilia bundles are much less stiff at 8 and 12 weeks of age
• stereocilia bundles are much shorter at 8 and 12 weeks of age
• mice show progressive degeneration of hair cells in the cochlea, showing hair cell loss in the basal turns of the cochlea as early as 6 weeks of age, spreading to the middle and apical turns at 9 and 16 weeks of age, respectively, and showing more than 80% outer hair cell loss in the basal turns by 32 weeks of age and in the middle and apical turns at 40 weeks of age
• DPOAE indicates early progressive functional impairment of outer hair cells
• the inner segments are thinner at 8, 16, and 24 weeks of age
• the outer segments are thinner at 8, 16, and 24 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
auditory system disease DOID:2742 J:274170
retinal degeneration DOID:8466 J:274170


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
11/12/2024
MGI 6.24
The Jackson Laboratory