Phenotypes Associated with This Genotype

Genotype
MGI:7616307

• Allelic Composition: Rnf130^{tm1a(EUCOMM)Wtsi}/Rnf130^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

prenatal lethality, incomplete penetrance ( J:338210 )

• heterozygous intercrosses generate homozygous pups at less than the expected Mendelian ratio (17% versus expected 25%)

• however, hypomorphic pups that survive birth are able to nurse, feed, and mature into adults with no significant difference in body weight at 10 weeks of age relative to heterozygous or wild-type controls

homeostasis/metabolism

decreased circulating cholesterol level ( J:338210 )

♂ • 10-week old hypomorphic mice with a 70% reduction in Rnf130 mRNA expression exhibit a significant decrease in total plasma cholesterol levels that is mainly attributable to decreases in the LDL fraction

decreased circulating LDL cholesterol level ( J:338210 )

♂ • 10-week old hypomorphic mice show significantly lower plasma low-density lipoprotein cholesterol (LDL-C) levels than wild-type controls

abnormal protein level ( J:338210 )

♂ • 10-week old hypomorphic mice show a significant increase in hepatic protein expression of low-density lipoprotein receptor (LDLR) relative to wild-type controls