MK;B6-Slc12a2^sy-ns/J

Stock number: 002757
Product name: no syndactylism
Research areas: Neurobiology Research, Sensorineural Research

Description

These mice carry a spontaneous mutation at the Slc12a2 locus characterized by deafness and balance defects.

Detailed description

Mice homozygous for the shaker with no syndactylism spontaneous mutation (Slc12a2^sy-ns) is allelic with the original radiaton-induced shaker-with-syndactylism mutation (sy). Homozygous mutant mice exhibit deafness and balance defects but have a normal foot morphology. Two other spontaneous alleles of sy, fused phalanges and fused phalanges 2 Jackson, do not affect hearing or behavior. Tests for allelism among mice with four different mutant alleles at the shaker-with-syndactylism locus (sy, sy^fp, sy^fp-2J, and Slc12a2^sy-ns) indicate that sy is a deletion including at least two genes associated with distinct phenotypes. Mice homozygous for sy have syndactylous feet and other skeletal malformations, are deaf, and exhibit abnormal behavior characteristic of vestibular dysfunction. Complementation test results indicate that sy, sy^fp and sy^fp-2J are alleles of the same gene, but that Slc12a2^sy-ns is an allele of a different gene.

Development

Shaker with no syndactylism (sy-ns) appeared in the offspring from frozen embryo parents of the microcytic anemia strain MK/ReJ x C57BL/6J (stock #002097) in 1993. Heterozygous or forced heterozygous sibling pairs were mated until generation F8 and then a backcross was made to C57BL/6J followed again by sibling matings. An F2 homozygote was then backcrossed to C57BL/6J and backcrossing was continued in the cross-intercross method to N4 to eliminate the microcytic anemia mutation (Slc11a2^mk) from the stock. The shaker with no syndactylism stock was cryopreserved in 2001 by mating heterozygous males at generation N4F1 to C57BL/6J females.

Allele

Symbol: Slc12a2^sy-ns
Name: no syndactylism
MGI accession ID: MGI:1857838
Generation method: Spontaneous
Synonyms: sy-ns
Marker symbol: Slc12a2
Marker name: solute carrier family 12, member 2
Marker synonyms: BSC; Bsc2; BSC-2; CCC1; hNKCC1; KILQS; mBSC2; Nkcc1; PPP1R141; sodium/potassium/chloride cotransporters; sy-ns
Chromosome: 18
Strain of origin: MK/ReJ x C57BL/6J
Molecular note: Nucleotide insertion at position 2955 located in exon 21 causes a frameshift and a premature stop codon.
General note: This allele fails to complement the sy locus but does complement the fused plalanges alleles. Therefore, the original sy deletion includes both the gene responsible for deafness (Slc12a2) and the gene responsible for abnormal foot morphology.