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Spontaneous Allele Detail
Symbol: Acancmd
Name: aggrecan; cartilage matrix deficiency
MGI ID: MGI:1856465
Gene: Acan  Location: Chr7:79053483-79115099 bp, + strand  Genetic Position: Chr7, 44.88 cM
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 detailsThe 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).
Disease models
In Mice Carrying this Mutation: 4 assay results
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:  31 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;43:71-84
All:  17 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.10
The Jackson Laboratory