Btk^vila
Chemically induced Allele Detail

Summary

• Symbol: Btk^vila
• Name: Bruton agammaglobulinemia tyrosine kinase; vila
• MGI ID: MGI:4820731
• Gene: Btk Location: ChrX:133443085-133484319 bp, - strand Genetic Position: ChrX, 56.18 cM
• Alliance: Btk^vila page

Mutation origin

• Strain of Origin: C57BL/6JAnu
• Project Collection: APF ENU Mutagenesis

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation has been identified as a C to T transition at nucleotide position 722 of the cDNA sequence (ENSMUST00000113214), which replaces the triplet encoding glutamine at amino acid (aa) position 196 of the 659 aa protein with a stop codon (Q196Ter). (J:104190)
• Inheritance: Other (see notes)

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)
Loading...
hm1	Btk^vila/Btk^vila	C57BL/6JAnu-Btk^vila/AnuApb

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms Sex:
hematopoietic system	√
abnormal leukocyte morphology	√
decreased B cell number	√
decreased IgD level	√
increased IgE level	√
increased IgG level	√
immune system	√
abnormal leukocyte morphology	√
decreased B cell number	√
decreased IgD level	√
increased IgE level	√
increased IgG level	√

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

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Btk Mutation: 21 strains or lines available

Notes

The mutant phenotype is observed in hemizygous male mice and is recessively inherited in female mice. (J:104190)

References

• Original: J:104190 The Australian Phenomics Facility at The Australian National University, Heritable mouse mutants from the ENU mutagenesis program at the Australian Phenomics Facility at The Australian National University. MGI Direct Data Submission. 2006-2014
• All: 1 reference(s)