Vldlr^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Vldlr^m2Btlr
• 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: Vldlr^m2Btlr 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 details: ENU-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

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: 71 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)