Mouse Strain information
APB ID 4980
Added 22/01/2010
Last Edited 10/05/2014
Strain name: 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 X
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: 7
Exon ID: ENSMUSE00000277322
cDNA position: 722
Amino acid change: Glutamine to STOP at position 196
Sequence:
692AAGCCTCTTCCCCCTACCCCAGAGGAAGATCAGATCTTGAAAAAACCGCTTCCCCCGGAGCcDNA (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 Cell biology
Haematology
Immunology and inflammation
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


   

 


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