About   Help   FAQ
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
Loading...
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory