Acan^cmd
Spontaneous Allele Detail

Summary

• Symbol: Acan^cmd
• Name: aggrecan; cartilage matrix deficiency
• MGI ID: MGI:1856465
• Gene: Acan Location: Chr7:78703231-78764847 bp, + strand Genetic Position: Chr7, 44.88 cM
• Alliance: Acan^cmd page

Radiographs of wild-type and Acan^cmd/Acan⁺ mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: STOCK T t^low Itpr3^tf

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The molecular lesion is a 7 bp deletion in exon 5. Reduced mRNA levels are seen. The mutation disrupts the coding region corresponding to the B subdomain of the N-terminal globular G1 domain of the encoded protein, and introduces a frame-shift resulting in a truncated protein, if expressed. (J:18520)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	18 assay results
In Structures Affected by this Mutation:	23 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 Acan Mutation: 80 strains or lines available

References

• Original: J:5952 Rittenhouse E, et al., Cartilage matrix deficiency (cmd): a new autosomal recessive lethal mutation in the mouse. J Embryol Exp Morphol. 1978 Feb;43(1):71-84
• All: 20 reference(s)