Phenotypes associated with this allele

• Allele Symbol: Fscn2^tm1Sykk
• Allele Name: targeted mutation 1, Shunji Yokokura
• Allele ID: MGI:3612337
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fscn2^tm1Sykk/Fscn2^tm1Sykk	involves: 129S4/SvJae * C57BL/6	MGI:3612479
ht2	Fscn2^tm1Sykk/Fscn2^+	involves: 129S4/SvJae * C57BL/6	MGI:3612480

Genotype
MGI:3612479

hm1

• Allelic Composition: Fscn2^tm1Sykk/Fscn2^tm1Sykk
• Genetic Background: involves: 129S4/SvJae * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal retina morphology ( J:103713 )

short photoreceptor outer segment ( J:103713 )

• shorter outer segments compared to wild-type and heterozygotes 4 and 24 weeks of age

• outer segments are extremely bent and misalignment of the outer segment discs is seen, especially near the distal end of connecting cilium

thin retina inner nuclear layer ( J:103713 )

• significantly thinner inner nuclear layer with fewer nuclei than in heterozygotes or wild-type at 24 weeks of age

thin retina outer nuclear layer ( J:103713 )

• slightly thinner outer nuclear layer with fewer nuclei than in wild-type at 4 weeks of age

• significantly thinner outer nuclear layer with fewer nuclei than in heterozygotes or wild-type at 24 weeks of age

increased susceptibility to age-related retinal degeneration ( J:103713 )

• retina degeneration increases with age

abnormal eye electrophysiology ( J:103713 )

abnormal cone electrophysiology ( J:103713 )

• photopic b-wave amplitudes are smaller at 4 and 32 weeks of age compared to heterozygotes and wild-type and progressively decrease with increasing age

abnormal rod electrophysiology ( J:103713 )

• scotopic a- and b-waves are significantly smaller at 4 and 24 weeks of age compared to heterozygotes and wild-type and progressively decrease with increasing age

nervous system

short photoreceptor outer segment ( J:103713 )

• shorter outer segments compared to wild-type and heterozygotes 4 and 24 weeks of age

• outer segments are extremely bent and misalignment of the outer segment discs is seen, especially near the distal end of connecting cilium

Genotype
MGI:3612480

ht2

• Allelic Composition: Fscn2^tm1Sykk/Fscn2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

vision/eye

abnormal retina morphology ( J:103713 )

short photoreceptor outer segment ( J:103713 )

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

thin retina inner nuclear layer ( J:103713 )

• thinner inner nuclear layer with reduced cell counts than in wild-type at 24 weeks of age

thin retina outer nuclear layer ( J:103713 )

• thinner outer nuclear layer with fewer nuclei than in wild-type at 4 and 24 weeks of age

increased susceptibility to age-related retinal degeneration ( J:103713 )

• decrease in rod function that worsens with increasing age and is followed by a reduction of cone function

abnormal eye electrophysiology ( J:103713 )

abnormal cone electrophysiology ( J:103713 )

• 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

abnormal rod electrophysiology ( 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)

nervous system

short photoreceptor outer segment ( J:103713 )

• 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