Col2a1^Rgsc413
Chemically induced Allele Detail

Summary

• Symbol: Col2a1^Rgsc413
• Name: collagen, type II, alpha 1; RIKEN Genomic Sciences Center (GSC), 413
• MGI ID: MGI:3800691
• Synonyms: M100413
• Gene: Col2a1 Location: Chr15:97873483-97902525 bp, - strand Genetic Position: Chr15, 53.97 cM
• Alliance: Col2a1^Rgsc413 page

Mutation origin

• Strain of Origin: C57BL/6JJcl
• Project Collection: RIKEN GSC ENU Project

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced an A to C point mutation that results in the amino acid substitution of serine for tyrosine at position 1391 (Y1391S). This mutation is present in patients with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD-T). (J:260538)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Col2a1 Mutation: 69 strains or lines available

References

• Original: J:133634 RIKEN BioResource Center/RIKEN Genomic Sciences Center, A Large Scale Mutagenesis Program in RIKEN GSC. PhenoSITE, World Wide Web (URL: http://www.brc.riken.jp/lab/gsc/mouse/). 2008
• All: 2 reference(s)