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Vldlrm2Btlr
Chemically induced Allele Detail
Summary
Symbol: Vldlrm2Btlr
Name: very low density lipoprotein receptor; mutation 2, Bruce Beutler
MGI ID: MGI:6197824
Synonyms: spotty
Gene: Vldlr  Location: Chr19:27193884-27231631 bp, + strand  Genetic Position: Chr19, 21.77 cM
Alliance: Vldlrm2Btlr 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 T to C transition at base pair 27,238,792 (v38) on chromosome 19, or base pair 22,304 in the GenBank genomic region NC_000085 encoding Vldlr. The mutation corresponds to residue 1,607 in the mRNA sequence NM_013703 within exon 7 of 19 total exons, and residue 1,607 in the mRNA sequence NM_001161420 within exon 7 of 18 total exons. The mutation results in a cysteine (C) to arginine (R) substitution at position 338 (C338R) in both variants of the VLDLR protein. (J:264645)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 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 Vldlr Mutation:  69 strains or lines available
References
Original:  J:264645 Ufret-Vincenty R, et al., Mutagenetix entry for spotty. 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
11/19/2024
MGI 6.24
The Jackson Laboratory