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| Nomenclature |
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Symbol:
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Acancmd
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Name:
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aggrecan;
cartilage matrix deficiency
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MGI ID: |
MGI:1856465 |
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Gene:
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Acan
Location:
Chr7:79053483-79115099 bp, + strand
Genetic Position: Chr7,
44.88 cM
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Radiographs of wild-type and Acancmd/Acan+ mice
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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STOCK T tlow Itpr3tf
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Intragenic deletion |
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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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
15 reference(s)
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Analysis Tools
