B6;129S-Fcgr2b^tm1Ttk Clcn1^adr-mto5J/J

Stock number: 003817
Research areas: Cell Biology Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs, Neurobiology Research

Detailed description

B6;129S-Fcgr2b^tm1Ttk Clcn1^adr-mto5J mice homozygous for Clcn1^adr-mto5J are affected by a neuromuscular disorder that manifests by weaning as an apparent weakness or stiffness in the rear legs, which is particularly noticeable when the mice are picked up and put down again (as when being transferred to a new cage). The phenotype may disappear as the mice get older. Both male and female homozygotes have normal lifespans and are fertile.

Development

The Clcn1^adr-mto5J mutation occurred spontaneously in the B6;129S-Fcgr2b^tm1Ttk/J (002848) colony at The Jackson Laboratory in October, 1999. It was shown to be recessive by the lack of a phenotype in F1 progeny of crosses to C57BL/6J, and it was shown to be a remutation at Clcn1 by its failure to complement Clcn1^adr-mto2J in an allele test.

Allele

Symbol: Clcn1^adr-mto5J
Name: myotonia 5 Jackson
MGI accession ID: MGI:3573744
Generation method: Spontaneous
Marker symbol: Clcn1
Marker name: chloride channel, voltage-sensitive 1
Chromosome: 6
Strain of origin: B6;129S-Fcgr2b^tm1Ttk
Molecular note: This mutation occurred spontaneously in a colony at The Jackson Laboratory in October, 1999. It was shown to be a remutation at Clcn1 by its failure to complement Clcn1^adr-mto2J in a complementation test.
General note: Mice homozygous for Clcn1^adr-mto5J are affected by a neuromuscular disorder that manifests by weaning as an apparent weakness or stiffness in the rear legs, which is particularly noticeable when the mice are picked up and put down again (as when being transferred to a new cage). The phenotype may disappear as the mice get older. Both male and female homozygotes have normal lifespans and are fertile.

Allele

Symbol: Fcgr2b^tm1Ttk
Name: targeted mutation 1, Toshiyuki Takai
MGI accession ID: MGI:1857166
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Fcgr2b
Marker name: Fc receptor, IgG, low affinity IIb
Chromosome: 1
Strain of origin: 129S4/SvJae
Molecular note: A 2.3 kb genomic fragment containing the S1 and EC1 exons was replaced by a neomycin resistance cassette. Encoded transcript was undetectable in homozygous mutant mice via Northern blot analysis (data not shown). Western blot analysis of LPS-stimulated B cells derived from homozygous mice confirmed that no protein was made from this allele, and FACS analysis demonstrated that no functional protein was expressed on the cell surface of B cells in homozygous mice.