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Scribm51206BHubr
Spontaneous Allele Detail
Summary
Symbol: Scribm51206BHubr
Name: scribbled planar cell polarity; mutation 51206B, Hubrecht Institute
MGI ID: MGI:4440642
Synonyms: 5120-6B, Scrib51206, ScribR1508X
Gene: Scrib  Location: Chr15:75919011-75941633 bp, - strand  Genetic Position: Chr15, 35.29 cM
Alliance: Scribm51206BHubr page
Lung development is affected in Scribm51206BHubr/Scribm51206BHubr embryos

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  FVB/N
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a C-to-T transition at coding nucleotide 4522 (ENSMUST00000002603) in exon 33. This mutation results in a nonsense mutation of arginine 1508 truncating the protein by 158 amino acids (p.R1508*). A 65% reduction in transcript expression was confirmed by qRT-PCR. (J:158680)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 6 assay results
In Structures Affected by this Mutation: 4 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Scrib Mutation:  54 strains or lines available
References
Original:  J:158680 Wansleeben C, et al., Planar cell polarity defects and defective Vangl2 trafficking in mutants for the COPII gene Sec24b. Development. 2010 Apr;137(7):1067-73
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory