Phenotypes associated with this allele

• Allele Symbol: Rnf130^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4432601
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rnf130^tm1a(EUCOMM)Wtsi/Rnf130^tm1a(EUCOMM)Wtsi	involves: C57BL/6N	MGI:7616307
ht2	Rnf130^tm1a(EUCOMM)Wtsi/Rnf130^+	involves: C57BL/6N	MGI:7616310

Genotype
MGI:7616307

hm1

• 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

Genotype
MGI:7616310

ht2

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:338210 )

♂N • heterozygous mice with only a 30% reduction in Rnf130 mRNA expression show no significant change in plasma LDL cholesterol (LDL-C) levels relative to wild-type controls