Crb1^tm2Wij
Targeted Allele Detail

Summary

• Symbol: Crb1^tm2Wij
• Name: crumbs family member 1, photoreceptor morphogenesis associated; targeted mutation 2, Jan Wijnholds
• MGI ID: MGI:3696955
• Synonyms: Crb1^C249W
• Gene: Crb1 Location: Chr1:139124794-139304838 bp, - strand Genetic Position: Chr1, 60.87 cM
• Alliance: Crb1^tm2Wij page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:117415
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• A point mutation in codon 249 resulted in a cysteine to tryptophan substitution in exon 3 (C249W). (J:117415)

Disease models

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 Crb1 Mutation: 92 strains or lines available

References

• Original: J:117415 van de Pavert SA, et al., A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1. J Neurosci. 2007 Jan 17;27(3):564-73
• All: 3 reference(s)