Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	ScribCrc
Name:	scribbled planar cell polarity; circletail
MGI ID:	MGI:1889322
Synonyms:	Crc
Gene:	Scrib  Location: Chr15:75919011-75941633 bp, - strand  Genetic Position: Chr15, 35.29 cM
Alliance:	ScribCrc page

Strain of Origin:

(NMRI x C57BL/6J)F2

Allele Type:    Spontaneous (Null/knockout) Mutation:    Insertion   Mutation details: 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. (J:81365, J:216413) Inheritance:    Semidominant

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	44 assay results
In Structures Affected by this Mutation:	9 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Scrib Mutation:	53 strains or lines available

Original:	J:62635 Rachel RA, et al., Retinal axon misrouting at the optic chiasm in mice with neural tube closure defects. Genesis. 2000 May;27(1):32-47
All:	21 reference(s)