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Phenotypes Associated with This Genotype
Genotype
MGI:3612480
Allelic
Composition
Fscn2tm1Sykk/Fscn2+
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fscn2tm1Sykk mutation (0 available); any Fscn2 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• shorter outer segments than in wild-type at 4 and 24 weeks of age
• thinner inner nuclear layer with reduced cell counts than in wild-type at 24 weeks of age
• thinner outer nuclear layer with fewer nuclei than in wild-type at 4 and 24 weeks of age
• decrease in rod function that worsens with increasing age and is followed by a reduction of cone function
• photopic b-waves are smaller than in wild-type at later ages (24-32 weeks) but not at early ages (4 weeks)
• photopic b-wave amplitudes decrease much later than the decrease in the scotopic b-wave amplitudes
• scotopic a- and b-waves are smaller than in wild-type at later ages (24-32 weeks) but not at early ages (4 weeks)

nervous system
• shorter outer segments than in wild-type at 4 and 24 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 30 DOID:0110406 OMIM:607921
J:103713


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
11/05/2024
MGI 6.24
The Jackson Laboratory