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Rab23opb
Spontaneous Allele Detail
Summary
Symbol: Rab23opb
Name: RAB23, member RAS oncogene family; open brain
MGI ID: MGI:1856980
Synonyms: opb1
Gene: Rab23  Location: Chr1:33758968-33781645 bp, + strand  Genetic Position: Chr1, 12.8 cM
Alliance: Rab23opb page
Rab23opb/Rab23opb embryos display neural tube closure defects, missing eyes, preaxial duplications of limbs, and detached skin

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

Mutation
origin
Strain of Origin:  NMRI
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsAn A-to-T mutation at coding nucleotide 115 of the encoded mRNA (c.115A>T) that altered codon 39 from a lysine to a stop codon (p.K39*). If the peptide is translated, it will lack the domains required for guanine nucleotide and Rab effector binding. (J:70423)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 70 assay results
In Structures Affected by this Mutation: 20 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 Rab23 Mutation:  33 strains or lines available
References
Original:  J:21617 Gunther T, et al., Open brain, a new mouse mutant with severe neural tube defects, shows altered gene expression patterns in the developing spinal cord. Development. 1994 Nov;120(11):3119-30
All:  7 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
04/16/2024
MGI 6.23
The Jackson Laboratory