Galc^m4Btlr
Chemically induced Allele Detail

Summary

• Symbol: Galc^m4Btlr
• Name: galactosylceramidase; mutation 4, Bruce Beutler
• MGI ID: MGI:6725088
• Synonyms: Galc^K207R
• Gene: Galc Location: Chr12:98168553-98225718 bp, - strand Genetic Position: Chr12, 49.83 cM
• Alliance: Galc^m4Btlr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis produced a T to C point mutation that results in the amino acid substitution of lysine with arginine at position 207 (K207R). (J:307652)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Galc Mutation: 46 strains or lines available

References

• Original: J:307652 Rios JJ, et al., Saturation mutagenesis defines novel mouse models of severe spine deformity. Dis Model Mech. 2021 Jun 1;14(6):dmm048901
• All: 1 reference(s)