Galc^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Galc^m3Btlr
• Name: galactosylceramidase; mutation 3, Bruce Beutler
• MGI ID: MGI:6304952
• Synonyms: quake
• Gene: Galc Location: Chr12:98168553-98225718 bp, - strand Genetic Position: Chr12, 49.83 cM
• Alliance: Galc^m3Btlr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced A to G transition at base pair 98,242,714 (v38) on chromosome 12, or base pair 16,750 in the GenBank genomic region NC_000078 encoding Galc. The mutation corresponds to residue 810 in the NM_008079 mRNA sequence in exon 7 of 17 total exons. The mutation results in an aspartic acid to glycine substitution at position 227 (D227G) in the GALC protein. (J:274842)
• Inheritance: Recessive

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Galc^m3Btlr/Galc^m3Btlr	C57BL/6J-Galc^m3Btlr

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
behavior/neurological	√
ataxia	√
hindlimb paralysis	√

View phenotypes and curated references for all genotypes (concatenated display).

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

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3341

References

• Original: J:274842 Prince L, et al., Mutagenetix entry for quake. MGI Direct Data Submission. 2019
• All: 1 reference(s)