Home - Australian Phenomics Facility

Mouse Strain information

APB ID

4980

Added

22/01/2010

Last Edited

10/05/2014

Strain nomenclature:

C57BL/6JAnu-Btkvila/AnuApb

Nickname:

Vila ; ENU12NIH:028

Strain designation name:

C57BL/6JAnu-Btkvila/AnuApb

Genetics

Strain Types

Mutant strain

Genetic Details

Chemically induced : ENU

Mode of Inheritance

Recessive

1. Affected Gene Name: Bruton agammaglobulinemia tyrosine kinase

Chromosome

Affected Gene Symbol

Btk

Protein expression of altered gene:

Unknown

Genetic alteration of gene:

ENU-induced mutation mutation in exon 7 (ensmuse00000277322). it is a C to T substitution of bp721. Resulting in an aa196 change of CAG (Gln) to TAG (stop).

Location on chromosome (bp):

131076875-131118109 bp, - strand (From VEGA annotation of NCBI Build 37)

MGI Gene Accession ID

Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)

MGI:88216

Synonyms

Bruton's tyrosine kinase, X-linked immune deficiency, xid

Allele Name

vila

Allele Symbol

Btkvila

MGI Allele Accession ID

MGI:4820731

Ensembl Gene ID:

ENSMUSG00000031264

Transcript ID:

ENSMUST00000113214

Transcript name:

Btk-201

bp change:

C to T at position 722 on cDNA

Exon number:

Exon ID:

ENSMUSE00000277322

cDNA position:

722

Amino acid change:

Glutamine to STOP at position 196

Sequence:
692	AAGCCTCTTCCCCCTACCCCAGAGGAAGATCAGATCTTGAAAAAACCGCTTCCCCCGGAGC	cDNA (reverse strand)
186	-K--P--L--P--P--T--P--E--E--D--Q--I--L--K--K--P--L--P--P--E--	protein

Version:

NCBI m37, Ensembl build 57

Mutant Construction Technique

None

Phenotype

Phenotype Homozygous State

Low peripheral blood B cell numbers. Decreased CD45 expression. Lower IgD expression. Higher IgG expression. Hyper IgE.

Phenotype Heterozygous State

Normal

Original Genetic Background

C57BL/6JAnu

Genetic Background Currently Maintained

C57BL/6JAnu

Strain identification

How is this strain characterised?

Genotyping
Phenotyping

Phenotyping technique:

FACS

Fertility and Strain maintenance

Fertility and Strain maintenance

Relevant bibliographic / database references

General information

Associated IP rights?

Unknown

Does it Model a Human Condition?

Unknown

Applicable Research Areas

Immunology and inflammation
Haematology
Cell biology

Keywords

B cell
immunoglobulin
IgE
IgD
NIH

Is the strain available in any form to other researchers

Yes

APB stock stored as:

Cryopreserved sperm (from 6 mice)

APB stock genotyped verified by:

Unverified

Are live mice available?

Unknown

MTA needs to be signed?

Yes