Mouse Genome Informatics
hm1
    Fscn2tm2Sykk/Fscn2tm2Sykk
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• shorter outer segment than in heterozygotes or wild-type at 4 and 24 weeks of age
• thinner inner nuclear layer with fewer nuclei than in heterozygotes or wild-type at 24 weeks of age
• thinner outer nuclear layer than in heterozygotes or wild-type at 4 and 24 weeks of age
• increases with age
• 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
• 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

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


Mouse Genome Informatics
ht2
    Fscn2tm2Sykk/Fscn2+
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 reduced cell counts 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
OMIM IDRef(s)
Retinitis Pigmentosa 30; RP30 607921 J:103713