Phenotypes associated with this allele

• Allele Symbol: Ruvbl2^em1(IMPC)Bay
• Allele Name: endonuclease-mediated mutation 1, Baylor College of Medicine
• Allele ID: MGI:7425955
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ruvbl2^em1(IMPC)Bay/Ruvbl2^em1(IMPC)Bay	C57BL/6NJ-Ruvbl2^em1(IMPC)Bay/Mmnc	MGI:7735135
hm2	Ruvbl2^em1(IMPC)Bay/Ruvbl2^em1(IMPC)Bay	C57BL/6N-Ruvbl2^em1(IMPC)Bay/BayMmucd	MGI:7629088

Genotype
MGI:7735135

hm1

• Allelic Composition: Ruvbl2^em1(IMPC)Bay/Ruvbl2^em1(IMPC)Bay
• Genetic Background: C57BL/6NJ-Ruvbl2^em1(IMPC)Bay/Mmnc

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

Ruvbl2^em1(IMPC)Bay/Ruvbl2^em1(IMPC)Bay mice exhibit embryonic lethality, with embryos recovered at E3.5 as blastocysts but not at E7.5. Blastocysts hatch from the zona pellucida but form irregular outgrowths with poorly defined inner cell mass colony when cultured in vitro.

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:279207 )

• although blastocysts are present at E3.5 (15% versus expected 25%, n=15), no homozygous embryos can be recovered at E7.5

• however, excess resorption sites suggest that embryos elicit a decidual response in vivo

embryo

abnormal inner cell mass morphology ( J:279207 )

• in vitro outgrowth assays show a poorly defined ICM colony after 3 days in culture

reproductive system

abnormal embryo implantation ( J:279207 )

• in vitro, blastocysts hatch from the zona pellucida but form irregular outgrowths after 3 days in culture

Genotype
MGI:7629088

hm2

• Allelic Composition: Ruvbl2^em1(IMPC)Bay/Ruvbl2^em1(IMPC)Bay
• Genetic Background: C57BL/6N-Ruvbl2^em1(IMPC)Bay/BayMmucd

Data Sources

IMPC Data for Ruvbl2

mortality/aging

preweaning lethality, complete penetrance ( J:211773 )

IMPC - BCM