Galc^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Galc^m2Btlr
• Name: galactosylceramidase; mutation 2, Bruce Beutler
• MGI ID: MGI:6268378
• Synonyms: teeter
• Gene: Galc Location: Chr12:98168553-98225718 bp, - strand Genetic Position: Chr12, 49.83 cM
• Alliance: Galc^m2Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to A transversion at base pair 98,259,162 (v38) on chromosome 12, or base pair 302 in the GenBank genomic region NC_000078 encoding Galc. The mutation corresponds to residue 298 in the NM_008079 mRNA sequence in exon 1 of 17 total exons. The mutation results in an aspartic acid to glutamic acid substitution at position 56 (D56E) in the GALC protein. (J:267485)
• Inheritance: Recessive

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 Galc Mutation: 46 strains or lines available

References

• Original: J:267485 Prince L, et al., Mutagenetix entry for teeter. MGI Direct Data Submission. 2018
• All: 1 reference(s)