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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fscn2tm2Sykk
targeted mutation 2, Shinji Yokokura
MGI:3612338
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fscn2tm2Sykk/Fscn2tm2Sykk involves: 129S4/SvJae * C57BL/6 MGI:3612481
ht2
Fscn2tm2Sykk/Fscn2+ involves: 129S4/SvJae * C57BL/6 MGI:3612482


Genotype
MGI:3612481
hm1
Allelic
Composition
Fscn2tm2Sykk/Fscn2tm2Sykk
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fscn2tm2Sykk mutation (0 available); any Fscn2 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• outer segments are extremely bent and misalignment of the outer segment discs is seen, especially near the distal end of connecting cilium (J:103713)
• outer segments are extremely bent and misalignment of the outer segment discs is seen, especially near the distal end of connecting cilium (J:103713)
• shorter outer segment than in heterozygotes or wild-type at 4 and 24 weeks of age (J:103713)
• shorter outer segment than in heterozygotes or wild-type at 4 and 24 weeks of age (J:103713)
• thinner inner nuclear layer with fewer nuclei than in heterozygotes or wild-type at 24 weeks of age (J:103713)
• thinner inner nuclear layer with fewer nuclei than in heterozygotes or wild-type at 24 weeks of age (J:103713)
• thinner outer nuclear layer than in heterozygotes or wild-type at 4 and 24 weeks of age (J:103713)
• thinner outer nuclear layer than in heterozygotes or wild-type at 4 and 24 weeks of age (J:103713)
• increases with age (J:103713)
• increases with age (J:103713)
• photopic b-waves are significantly smaller at both early (4 weeks of age) and later ages (24-32 weeks) compared to heterozygotes and wild-type and progressively decrease with increasing age (J:103713)
• photopic b-waves are significantly smaller at both early (4 weeks of age) and later ages (24-32 weeks) compared to heterozygotes and wild-type and progressively decrease with increasing age (J:103713)
• scotopic a- and b-waves are significantly smaller at both early (4 weeks of age) and later ages (24-32 weeks) compared to heterozygotes and wild-type and progressively decrease with increasing age (J:103713)
• scotopic a- and b-waves are significantly smaller at both early (4 weeks of age) and later ages (24-32 weeks) compared to heterozygotes and wild-type and progressively decrease with increasing age (J:103713)

nervous system
• outer segments are extremely bent and misalignment of the outer segment discs is seen, especially near the distal end of connecting cilium (J:103713)
• outer segments are extremely bent and misalignment of the outer segment discs is seen, especially near the distal end of connecting cilium (J:103713)
• shorter outer segment than in heterozygotes or wild-type at 4 and 24 weeks of age (J:103713)
• shorter outer segment than in heterozygotes or wild-type at 4 and 24 weeks of age (J:103713)




Genotype
MGI:3612482
ht2
Allelic
Composition
Fscn2tm2Sykk/Fscn2+
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fscn2tm2Sykk mutation (0 available); any Fscn2 mutation (8 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 (J:103713)
• shorter outer segments than in wild-type at 4 and 24 weeks of age (J:103713)
• thinner inner nuclear layer with reduced cell counts than in wild-type at 24 weeks of age (J:103713)
• thinner inner nuclear layer with reduced cell counts than in wild-type at 24 weeks of age (J:103713)
• thinner outer nuclear layer with reduced cell counts than in wild-type at 4 and 24 weeks of age (J:103713)
• thinner outer nuclear layer with reduced cell counts than in wild-type at 4 and 24 weeks of age (J:103713)
• decrease in rod function that worsens with increasing age and is followed by a reduction of cone function (J:103713)
• decrease in rod function that worsens with increasing age and is followed by a reduction of cone function (J:103713)
• photopic b-waves are smaller than in wild-type at later ages (24-32 weeks) but not at early ages (4 weeks) (J:103713)
• photopic b-wave amplitudes decrease much later than the decrease in the scotopic b-wave amplitudes (J:103713)
• photopic b-waves are smaller than in wild-type at later ages (24-32 weeks) but not at early ages (4 weeks) (J:103713)
• photopic b-wave amplitudes decrease much later than the decrease in the scotopic b-wave amplitudes (J:103713)
• scotopic a- and b-waves are smaller than in wild-type at later ages (24-32 weeks) but not at early ages (4 weeks) (J:103713)
• scotopic a- and b-waves are smaller than in wild-type at later ages (24-32 weeks) but not at early ages (4 weeks) (J:103713)

nervous system
• shorter outer segments than in wild-type at 4 and 24 weeks of age (J:103713)
• shorter outer segments than in wild-type at 4 and 24 weeks of age (J:103713)

Mouse Models of Human Disease
OMIM ID Ref(s)
Retinitis Pigmentosa 30; RP30 607921 J:103713





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory