Malrd1^C57BL/6ByJ
QTL Variant Detail

Summary

• QTL variant: Malrd1^C57BL/6ByJ
• Name: MAM and LDL receptor class A domain containing 1; C57BL/6By
• MGI ID: MGI:2154956
• Synonyms: Diet1^-
• QTL: Malrd1 Location: Chr2:15531290-16260366 bp, + strand Genetic Position: Chr2, 5.8 cM
• QTL Note: genome coordinates based on the marker associated with the peak LOD score

Variant origin

• Strain of Specimen: C57BL/6ByJ

Variant description

• Allele Type: QTL (Null/knockout)
• Mutation: Duplication
• Malrd1^C57BL/6ByJ involves 1 genes/genome features (Malrd1) View all
• Mutation details: A spontaneous duplication results in a greater than 33 kb insertion containing a second copy of exons 21, 22 and 23. This duplication introduces a frame shift and premature stop codon. Northern blot analysis confirmed the absence of transcript expression. (J:61563, J:73640, J:199245)
• Inheritance: Recessive

Notes

This allele confers decreased plasma LDL and VLDL levels compared to A/J. This allele confers increased plasma bile acid levels compared to CAST/Ei.

References

• Original: J:61563 Mouzeyan A, et al., A locus conferring resistance to diet-induced hypercholesterolemia and atherosclerosis on mouse chromosome 2. J Lipid Res. 2000 Apr;41(4):573-82
• All: 4 reference(s)