Crybb2^Lop19
Spontaneous Allele Detail

Summary

• Symbol: Crybb2^Lop19
• Name: crystallin, beta B2; lens opacity 19
• MGI ID: MGI:5433854
• Gene: Crybb2 Location: Chr5:113206124-113217983 bp, - strand Genetic Position: Chr5, 55.38 cM
• Alliance: Crybb2^Lop19 page

Mutation origin

• Strain of Origin: SJL/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A G-to-A (C-to-T on negative gene strand) transition in exon 5 at coding nucleotide 562 causes an arginine to cysteine mutation at amino acid 188 (p.R188C). (J:187061)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Crybb2 Mutation: 13 strains or lines available

References

• Original: J:187061 Hawes NL, et al., Lens opacity 19, a spontaneous dominant mutation in beta 2 crystallin. MGI Direct Data Submission. 2012
• All: 1 reference(s)