Cryaa^2J
Spontaneous Allele Detail

Summary

• Symbol: Cryaa^2J
• Name: crystallin, alpha A; 2 Jackson
• MGI ID: MGI:3665275
• Synonyms: alphaA(Cys), Cryaa^nm3365
• Gene: Cryaa Location: Chr17:31896905-31900704 bp, + strand Genetic Position: Chr17, 17.09 cM, cytoband A3-B
• Alliance: Cryaa^2J page

Mutation origin

• Strain of Origin: FVB/N-Tg(Trp53R172L)4491Jmr/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: Sequencing analysis revealed that a C-to-T transition mutation occurred at coding nucleotide 160 in exon 1, which results in the substitution of the arginine residue at codon 54 by a cysteine in the encoded protein (p.R54C). (J:112248)
• Inheritance: Dominant

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Cryaa Mutation: 15 strains or lines available

References

• Original: J:112248 Xia CH, et al., Arginine 54 and Tyrosine 118 residues of {alpha}A-crystallin are crucial for lens formation and transparency. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3004-10
• All: 2 reference(s)