Mouse Strain information
APB ID 59
Added 06/02/2006
Last Edited 10/05/2014
Strain name: C57BL/6JSfdAnu-Ncaph2nes/AnuApb
Nickname: Nessy
Strain designation name: C57BL/6JSfdAnu-Ncaph2nes/AnuApb
Genetics
Strain Types Mutant strain
Coisogenic
Genetic Details Chemically induced : ENU
Mode of Inheritance Recessive
1.  Affected Gene Name: non-SMC condensin II complex, subunit H2  
Chromosome 15
Affected Gene Symbol Ncaph2
Protein expression of altered gene: Unknown
Genetic alteration of gene: ENU induced mutation. T⇒A in exon 1, nucleotide ,I15N (long form), S13T (short form) (note that there are two ATG transcriptional start sites for this gene, resulting in three alternate amino acid sequences for exon 1).
Location on chromosome (bp): 89186150-89203257 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:1289164
Synonyms Kleisin beta
Allele Name nessy
Allele Symbol Ncaph2nes
MGI Allele Accession ID MGI:3710093
Ensembl Gene ID: ENSMUSG00000008690
Transcript ID: ENSMUST00000074552
Transcript name: Ncaph2-001
bp change: T to A at position 144 on cDNA
Exon number: 1
Exon ID: ENSMUSE00000504356
cDNA position: 144
Amino acid change: Isoleucine to Asparagine at position 15
Sequence:
114AGGTGCGCTTTGCTCACCTCTTGCAGCCCATCCGGGATCTCACTAAGAACTGGGAGGTGGAcDNA (forward strand)
5E--V--R--F--A--H--L--L--Q--P--I--R--D--L--T--K--N--W--E--V--Dprotein
Version: NCBI m37, Ensembl build 55
Mutant Construction Technique None
Phenotype
Phenotype Homozygous State The nessy mouse has a defect in T lymphocyte development that decreases circulating T cell numbers, increases their expression of the activation/memory marker CD44, and dramatically decreases the numbers of CD4(+)CD8(+) thymocytes and their immediate DN4 precursors. Thymic T cell differentiation defect at DN-DP transition, low peripheral T cell numbers, remaining cells all CD44high, Two fold more gd T cells, Defect resembles mice with exaggerated TCR signalling due to defects in c-cbl and slap proteins and defects in cbl plus cbl-b. No defect in B cells. Homozygotes grow at normal rate, size and are fertile. Intrinsic to T cells. Despite the ubiquitous expression and role of condensins, kleisin beta(nes/nes) mice were viable, fertile, and showed no defects even in the parallel pathway of B cell lymphocyte differentiation.
Original Genetic Background C57BL/6JSfdAnu
Genetic Background Currently Maintained C57BL/6JSfdAnu
Coat Colour Black
Strain identification
How is this strain characterised? Genotyping
PCR protocols Nessy typing protocol
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? Unknown
Applicable Research Areas Immunology and inflammation
Keywords
  • T cell
  • lymphocyte
  • condensin
  • differentiation
  • ENU
Is the strain available in any form to other researchers Yes
APB stock stored as: Cryopreserved sperm (from 8 mice)

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


   

 


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