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Chkbrmd
Spontaneous Allele Detail
Nomenclature
Symbol: Chkbrmd
Name: choline kinase beta; rostrocaudal muscular dystrophy
MGI ID: MGI:3578417
Gene: Chkb  Location: Chr15:89426360-89429908 bp, - strand  Genetic Position: Chr15, 44.89 cM
Small size, radius and ulna deformities and muscle wasting in Chkbrmd/Chkbrmd mice

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

Mutation
origin
Strain of Origin:  BALB/cByJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThe rmd mutation is a 1663 bp intragenic deletion, extending from the end of exon 3 to the middle of intron 9. (J:108320)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Chkb Mutation:  14 strains or lines available
References
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
All:  6 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
02/12/2019
MGI 6.13
The Jackson Laboratory