Cd40^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Cd40^m1Btlr
• Name: CD40 antigen; mutation 1, Bruce Beutler
• MGI ID: MGI:5640773
• Synonyms: bluebonnet
• Gene: Cd40 Location: Chr2:164897535-164913574 bp, + strand Genetic Position: Chr2, 85.38 cM
• Alliance: Cd40^m1Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation is a T to C transition at base pair 165,062,301 (v38) on chromosome 2, or base pair 6,698 in the GenBank genomic region NC_000068. The mutation corresponds to residue 139 in the mRNA sequences NM_011611 (variant 1; within exon 2 of 9 total exons), NM_170703 (variant 2; within exon 2 of 8 total exons), NM_170704 (variant 4; within exon 2 of 9 total exons), and NM_170702 (variant 5; within exon 2 of 8 total exons). The mutation results in an cysteine (C) to arginine (R) substitution at position 23 (C23R). (J:221482)
• 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	Cd40^m1Btlr/Cd40^m1Btlr	C57BL/6J-Cd40^m1Btlr

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
immune system	√
impaired humoral immune response	√

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 Cd40 Mutation: 53 strains or lines available

References

• Original: J:221482 Wang KW, et al., Mutagenetix entry for bluebonnet. MGI Direct Data Submission. 2015
• All: 2 reference(s)