Chkb^rmd
Spontaneous Allele Detail

Summary

• Symbol: Chkb^rmd
• Name: choline kinase beta; rostrocaudal muscular dystrophy
• MGI ID: MGI:3578417
• Gene: Chkb Location: Chr15:89310563-89314111 bp, - strand Genetic Position: Chr15, 44.89 cM
• Alliance: Chkb^rmd page

Small size, radius and ulna deformities and muscle wasting in Chkb^rmd/Chkb^rmd 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 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)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 18 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: 7 reference(s)