Phenotypes associated with this allele

• Allele Symbol: Rbm47^{Gt(D027B04)Wrst}
• Allele Name: gene trap D027B04, German Gene Trap Consortium
• Allele ID: MGI:3888581
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rbm47^Gt(D027B04)Wrst/Rbm47^Gt(D027B04)Wrst	involves: 129S2/SvPas	MGI:5695583
ht2	Rbm47^Gt(D027B04)Wrst/Rbm47^+	involves: 129S2/SvPas	MGI:5695580

Genotype
MGI:5695583

hm1

• Allelic Composition: Rbm47^{Gt(D027B04)Wrst}/Rbm47^{Gt(D027B04)Wrst}
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

decreased survivor rate ( J:217130 )

• some homozygotes survive beyond weaning

prenatal lethality, incomplete penetrance ( J:217130 )

• most homozygotes die prior to birth, after implantation

growth/size/body

decreased body size ( J:217130 )

• surviving adult homozygotes are significantly smaller than wild-type littermates

cellular

abnormal cell physiology ( J:217130 )

• homozygotes exhibit highly reduced Cytidine (C) to Uridine (U) editing of Apob RNA relative to wild-type controls

• Western blot of protein extracts from the small intestine of adult homozygotes revealed that APOB100 (encoded by unedited mRNA) is the predominant APOB isoform, unlike in wild-type controls where APOB48 (encoded by edited Apob) is the main detectable isoform

• RT-PCR analysis confirmed a significant reduction in C to U editing of Apob RNA and other RNA molecules that are potential targets of this post-transcriptional modification in the small intestine, while their level of gene expression was not changed

Genotype
MGI:5695580

ht2

• Allelic Composition: Rbm47^{Gt(D027B04)Wrst}/Rbm47⁺
• Genetic Background: involves: 129S2/SvPas

normal phenotype

no abnormal phenotype detected ( J:217130 )

• adult heterozygotes are healthy and fertile and exhibit normal C to U RNA editing relative to wild-type controls

• Western blot of protein extracts from the small intestine of adult heterozygotes confirmed that APOB48 (encoded by edited Apob) is the main APOB isoform detected in the small intestine, similar to wild-type controls