Mouse Strain information
APB ID 2442
Added 14/01/2008
Last Edited 13/06/2011
Strain name: C57BL/6JSfdAnu-Coro1akoy/Apb
Nickname: Koy
Strain designation name: C57BL/6JSfdAnu-Coro1akoy/Apb
Genetics
Strain Types Mutant strain
Coisogenic
Genetic Details Chemically induced : ENU
Mode of Inheritance Recessive
1.  Affected Gene Name: coronin, actin binding protein 1A  
Chromosome 7
Affected Gene Symbol Coro1a
Protein expression of altered gene: Reduced
Genetic alteration of gene: ENU-induced mutation. An A-to-T substitution in exon 7 of Coro1a in the gene locus resulted in an aspartic acid-to-valine substitution at residue 278. This residue is located at a contact surface predicted to be critical for the proper assembly and stability of the protein. Immunoblot analysis of total thymocytes showed that mutant cells had roughly one tenth as much protein as wild-type cells. This allele is considered to be a hypomorph allele.
Location on chromosome (bp): 133843287-133848330 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:1345961
Synonyms Clabp, coronin 1, Lmb3, p57
Allele Name coronin, actin binding protein 1A; koyaanisqatsi
Allele Symbol Coro1akoy
MGI Allele Accession ID MGI:3818509
Allele synonyms: Coro1aD278V, Koy
Ensembl Gene ID: ENSMUSG00000030707
Transcript ID: ENSMUST00000106364
Transcript name: Coro1a-002
bp change: G to A at position 329 on cDNA
Exon number: 2
Exon ID: ENSMUSE00000202191
cDNA position: 329
Amino acid change: Glutamic acid to Lysine at position 26
Sequence:
299GGACAGCCAGCCAAGGCTGACCAGTGCTATGAGGATGTGCGCGTCTCACAAACCACTTGGGcDNA (reverse strand)
16-G--Q--P--A--K--A--D--Q--C--Y--E--D--V--R--V--S--Q--T--T--W--protein
Version: NCBI m37, Ensembl build 57
Mutant Construction Technique None
Phenotype
Phenotype Homozygous State Mice have few peripheral blood CD4 or CD8 T cells. T cells are also reduced in spleen and LN. There is reduced transwell migration of thymocytes and naive mature T cells to SDF (CXCL12) or to ELC (CCL21). Elevated phalloidin staining (elevated F actin). Decreased CD4-positive T cell number: CD4+ T cell numbers in the periphery are significantly decreased about 5-fold. Decreased CD8-positive T cell number: CD8+ T cell numbers in the periphery are significantly decreased about 5-fold. Decreased thymocyte number: the percentage of mature (CD69loCD62Lhi) single-positive thymocytes is decreased in these mice. Abnormal T cell physiology: * in vitro transwell assays demonstrate migration defects in thymic CD4+ T cells' response to sphingosine 1-phosphate, CCL21, and CXCL12. * similar defects are observed in the migratory response of CD4+CD8+ T cells to CXCL12 and of splenic CD4+ T cells to CCL21.
Phenotype Heterozygous State Slight T cell deficit.
Original Genetic Background C57BL/6JStdAnu
Genetic Background Currently Maintained C57BL/6JStdAnu
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? No
Does it Model a Human Condition? Yes
Description of human condition: Severe Combined Immunodeficiency
Research value of this Strain Severe combined immunodeficiency, point mutation also found in human disease.
Applicable Research Areas Immunology and inflammation
Keywords
  • T cell
  • CD8
  • SCID
  • CD4
  • migration
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
  • egress
Is the strain available in any form to other researchers Yes
APB stock stored as: Cryopreserved sperm (from 13 mice)

APB stock genotyped verified by: Unverified
Are live mice available? Unknown
MTA needs to be signed? Yes


   

 


Build: 2017.11.14 Non-profit supported by the Australian government  |  © Copyright 2017 Australian Phenomics Facility Last updated: 16/11/2017