Mouse Strain information
APB ID 5
Added 28/11/2005
Last Edited 17/04/2014
Strain name: C57BL/6JSfdAnu-Jak3bfy/AnuApb
Nickname: Buffy
Strain designation name: C57BL/6JSfdAnu-Jak3bfy/AnuApb
Genetics
Strain Types Mutant strain
Genetic Details Chemically induced : ENU
Mode of Inheritance Recessive
1.  Affected Gene Name: Janus kinase 3  
Chromosome 8
Affected Gene Symbol Jak3
Protein expression of altered gene: Normal
Genetic alteration of gene: ENU induced mutation
Location on chromosome (bp): 71676296-71690575 bp, + strand From VEGA annotation of GRCm38
MGI Gene Accession ID

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

MGI:99928
Allele Name buffy
Allele Symbol Jak3bfy
MGI Allele Accession ID MGI:3611885
Ensembl Gene ID: ENSMUSG00000031805
Transcript ID: ENSMUST00000051995
Transcript name: Jak3-001
bp change: T to C at position 1490 on cDNA
Exon number: 9
Exon ID: ENSMUSE00000329342
cDNA position: 1490
Amino acid change: Leucine to Proline at position 398
Sequence:
1460CCGCTGGCTCCCTCCCAGGCACCTACATTCTCCGCCGCAGCCCGCAGGACTATGACAGCTTcDNA (forward strand)
388A--A--G--S--L--P--G--T--Y--I--L--R--R--S--P--Q--D--Y--D--S--Fprotein
Version: NCBI m37, Ensembl build 55
Mutant Construction Technique None
Phenotype
Phenotype Homozygous State Pan-Lymphopenia with hyperactivated CD4⁺ cells Obstructed B cell maturation Reduced B cell numbers in periphery B220⁺CD19⁺cells, IgM⁺IgD⁺ cells or CD21⁺IgD⁺ cells were reduced in the spleen by factor of 3. Peritoneal cavity: reduced IgM⁺IgD⁻ cells and only partially reduced IgM⁺IgD⁺ cell numbers Reduced numbers of thymocytes at all stages of T cell maturation. Thymi are smaller than aged-matched controls. 50% of CD4⁺ cells compared to controls 4 fold lower levels of CD8⁺ cells compared to controls Mutation intrinsic to B and T cells, exaggerated under competitive reconstitution with wild-type cells, SCID mouse. Develop diarrhoea
Original Genetic Background C57BL/6JSfdAnu
Genetic Background Currently Maintained C57BL/6JSfdAnu
Coat Colour Black
Strain identification
How is this strain characterised? Genotyping
PCR protocols Buffy (Buf)
Fertility and Strain maintenance
Fertility and Strain maintenance
Relevant bibliographic / database references
General information
Associated IP rights? No
Does it Model a Human Condition? Unknown
Applicable Research Areas Immunology and inflammation
Keywords
  • T cell
  • B cell
  • IL-2
  • Thymus
  • ENU
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 APF
Are live mice available? No
MTA needs to be signed? Yes


   

 


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