Col11a1^cho
Spontaneous Allele Detail

Summary

• Symbol: Col11a1^cho
• Name: collagen, type XI, alpha 1; chondrodysplasia
• MGI ID: MGI:1856399
• Synonyms: cho, ColXIa1-
• Gene: Col11a1 Location: Chr3:113824189-114014367 bp, + strand Genetic Position: Chr3, 49.35 cM
• Alliance: Col11a1^cho page

Mutation origin

• Strain of Origin: C57BL/6Fr

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The Col11a1 gene is disrupted in this naturally occurring mutation, chondrodysplasia (cho). Linkage studies map Col11a1 to the same region of Chr 3 as the cho mutation. There is a single nucleotide (C) deletion in the Col11a1 gene downstream of the translation initiation codon in mRNA from cho homozygotes; this disrupts the reading frame of the mRNA and introduces a premature stop codon. (J:22965)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	32 assay results
In Structures Affected by this Mutation:	21 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 Col11a1 Mutation: 90 strains or lines available

References

• Original: J:24730 Seegmiller R, Chondrodysplasia - an autosomal recessive mutation. Mouse News Lett. 1969;40:38
• All: 17 reference(s)