Home - Australian Phenome Bank

Mouse Strain information

APB ID

5115

Added

11/05/2010

Last Edited

02/06/2014

Strain nomenclature:

B6.Cg-Btkm1Anu Yaa/AnuApb

Nickname:

ENU14Yaa:016a

Strain designation name:

B6.Cg-Btkm1Anu Yaa/AnuApb

Genetics

Strain Types

Mutant strain
Congenic

Genetic Details

Chemically induced : ENU
Spontaneous

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

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

Bruton agammaglobulinemia tyrosine kinase; mutation 1, The Australian National University

Allele Symbol

Btkm1Anu

MGI Allele Accession ID

MGI:5563504

Ensembl Gene ID:

ENSMUSG00000031264

Transcript ID:

ENSMUST00000033617

Transcript name:

Btk-001

bp change:

G to A

Intron number:

Genomic position:

131089223

Sequence:
131089253	GTGTCTGTGTTTGCTAAATCTACTGGgtacGtgttatggttccagtgatatggggttaaagg	genomic (reverse strand)
	Exons

Version:

NCBI m37, Ensembl build 57

2. Affected Gene Name: accelerated autoimmunity and lymphoproliferation transposition

Chromosome	Y
Affected Gene Symbol	Yaa
Genetic alteration of gene:	An approximately 4 MB region of the X chromosome that includes at least 13 known genes (spanning from Ofd1 to Mid1) was translocated to the Y chromosome adjacent to the pseudoautosomal region. Increased RNA expression of Msl3, Tlr7, Tmsb4x and Rab9 was detected in follicular B cells.
Location on chromosome (bp):	Syntenic
MGI Gene Accession ID Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)	MGI:99140
Synonyms	Tp(X;Y)1Ekw
Allele Name	accelerated autoimmunity and lymphoproliferation transposition; accelerated autoimmunity and lymphoproliferation
Allele Symbol	Yaa
MGI Allele Accession ID	MGI:1856277
Allele synonyms:	Is(XOfd1-Mid1;Y)1Mp, Tp(X;Y)1Ekw

Mutant Construction Technique

None

Phenotype

Phenotype Homozygous State

Low B cell numbers in peripheral blood. While mice carry Yaa allele the phenotype does not appear to be dependent upon Yaa.

Original Genetic Background

C57BL/6JAnu

Genetic Background Currently Maintained

C57BL/6JAnu x B6.SB-Yaa

Strain identification

How is this strain characterised?

Genotyping
Phenotyping

Fertility and Strain maintenance

Fertility and Strain maintenance

Relevant bibliographic / database references

Strain Specific References

Other Related References

General information

Associated IP rights?

Does it Model a Human Condition?

Unknown

Applicable Research Areas

Immunology and inflammation
Haematology
Cancer
Developmental biology
Internal/organ
Cardiovascular

Keywords

Monocytes
T cell
lymphoma
autoantibody
ENU
B cell

Is the strain available in any form to other researchers

Yes

APB stock stored as:

Cryopreserved sperm (from 5 mice)

APB stock genotyped verified by:

The depositor

Are live mice available?

Unknown

MTA needs to be signed?