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| Nomenclature |
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Symbol:
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Chkbrmd
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Name:
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choline kinase beta;
rostrocaudal muscular dystrophy
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MGI ID: |
MGI:3578417 |
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Gene:
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Chkb
Location:
Chr15:89416405-89429908 bp, - strand
Genetic Position: Chr15,
44.89 cM
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Small size, radius and ulna deformities and muscle wasting in Chkbrmd/Chkbrmd 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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BALB/cByJ
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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 rmd mutation is a 1663 bp intragenic deletion, extending from the end of exon 3 to the middle of intron 9. (J:108320)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Chkb Mutation:
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4 strains or lines available |
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| References |
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Original: |
J:108320
Sher RB et al.,
"A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis."
J Biol Chem 2006 Feb 24;281(8):4938-48
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All: |
5 reference(s)
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Analysis Tools
