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Rims4m2Btlr
Chemically induced Allele Detail
Summary
Symbol: Rims4m2Btlr
Name: regulating synaptic membrane exocytosis 4; muation 2, Bruce Beutler
MGI ID: MGI:6114733
Synonyms: diminutive
Gene: Rims4  Location: Chr2:163701671-163760603 bp, - strand  Genetic Position: Chr2, 84.52 cM
Alliance: Rims4m2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced G to A transition at base pair 163,864,865 (v38) on chromosome 2, or base pair 54,126 in the GenBank genomic region NC_000068 within the donor splice site of intron 5. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic splice site in exon 5. The use of a cryptic splice site would result in a transcript with a 42-base pair deletion in exon 5 and an in-frame deletion of 14 amino acids (amino acids 185-198). (J:255289)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Rims4 Mutation:  37 strains or lines available
References
Original:  J:255289 SoRelle J, et al., Mutagenetix entry for diminutive. MGI Direct Data Submission. 2018;
All:  1 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
12/10/2024
MGI 6.24
The Jackson Laboratory