CBACa.Cg-Scrib^Crc/RachJ

Stock number: 006130
Research areas: Neurobiology Research

Description

Mice homozygous for this spontaneous mutation develop severe neural tube defects and die at birth. In it's most severe form, the neural tube fails to initiate Closure 1 (craniorachischichisis). Heterozygotes, predominantly males, often exhibit a looping or kinked tail. This strain may used to research neural tube defects.

Detailed description

Mice homozygous for this spontaneous mutation develop severe neural tube defects and die at birth. In it's most severe form, the neural tube fails to initiate Closure 1 (craniorachischichisis). Heterozygotes, predominantly males, often exhibit a looping or kinked tail. This strain may used to research neural tube defects.

Development

This spontaneous mutation arose on a mixed NMRI, BALB/c, C57BL/6 transgenic line that had been backcrossed twice to C57BL/6. The circletail phenotype was isolated from the transgenic line and maintained by crossing circletail males with female littermates. The donating investigator maintained the strain by crossing heterozygotes to the inbred strain, CBA/CaJ The backcross generation reached N14 in 2006. The Jackson Laboratory Repository imported this strain in 2007.

Allele

Symbol: Scrib^Crc
Name: circletail
MGI accession ID: MGI:1889322
Generation method: Spontaneous
Attributes: Null/Knockout
Synonyms: Crc
Marker symbol: Scrib
Marker name: scribbled planar cell polarity
Marker synonyms: Crc; CRIB1; mKIAA0147; oSCRIB; RGD1565055; Scrb1; SCRIB1; Vartul
Chromosome: 15
Strain of origin: (NMRI x C57BL/6J)F2
Molecular note: A spontaneous mouse mutant that arose in a line carrying a tyrosinase minigene; however, the circletail mutation segregated independently of the transgene. Sequence analysis demonstrated that the coding region contained a single base insertion at codon 947, nucleotide 3182-3 compared with wild-type DNA. The nucleotide insertion is unique to the mutant, and is absent from 16 other mouse strains, including the parental strains on which mutation arose and other unrelated strains. The insertion is predicted to cause a frame shift resulting in a premature termination codon and truncation of the protein to 971 amino acids. Western blot analysis indicates complete absence of the full-length protein in homozygotes and no evidence for a truncated, 100-120 kDa isoform is detected.