Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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

Radiographs of wild-type and Acancmd/Acan+ mice Show the 3 phenotype image(s) involving this allele.

Strain of Origin:

STOCK T tlow Itpr3tf

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

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	18 assay results
In Structures Affected by this Mutation:	23 anatomical structure(s)

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:	77 strains or lines available

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)