Srebf2^lop13
Spontaneous Allele Detail

Summary

• Symbol: Srebf2^lop13
• Name: sterol regulatory element binding factor 2; lens opacity 13
• MGI ID: MGI:1856940
• Gene: Srebf2 Location: Chr15:82031455-82089580 bp, + strand Genetic Position: Chr15, 38.49 cM
• Alliance: Srebf2^lop13 page

Cataracts in Srebf2^lop13/Srebf2^lop13 mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: 129T1/Sv-Dnd1^Ter

Mutation description

Allele Type: Spontaneous (Hypomorph) Mutation: Single point mutation Mutation details: A C-to-T mutation at coding nucleotide 3112 in exon 18 results in an arginine to cysteine substitution at amino acid 1038 (p.R1038C). (J:176249) Inheritance: Recessive

Analysis of the point mutation in the Srebf2^lop13 allele

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Srebf2 Mutation: 78 strains or lines available

References

• Original: J:13874 Varnum D, Nuclear cataract (nuc). Mouse News Lett. 1981;64:59
• All: 3 reference(s)