Phenotypes Associated with This Genotype

Genotype
MGI:5495186

• Allelic Composition: Smg1^{Gt(RRT449)Byg}/Smg1^{Gt(RRT449)Byg}
• Genetic Background: B6.129P2-Smg1^{Gt(RRT449)Byg}

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

Developmental defects in Smg1^{Gt(RRT449)Byg}/Smg1^{Gt(RRT449)Byg} embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:196053 )

• mice are present in utero until E12.5

cardiovascular system

abnormal cardiovascular development ( J:196053 )

• no vascular system develops

abnormal heart development ( J:196053 )

• at E8.0, mice lack a developed heart field

• delayed at E10.5 without heart looping and development of a multi-chambered heart structure

failure of heart looping ( J:196053 )

• at E10.5

internal hemorrhage ( J:196053 )

• in the thoracoabdominal region at E12.5

embryo

increased embryonic tissue cell apoptosis ( J:196053 )

• in embryos at E12.5

delayed embryo turning ( J:196053 )

• unturned at E8.0

• delayed turning by E10.5

embryonic growth arrest ( J:196053 )

• at E8.5

decreased embryo size ( J:196053 )

• at E8.0 and E10.5

nervous system

delayed brain development ( J:196053 )

• at E10.5 without formation of the three primary brain vesicles

vision/eye

abnormal eye development ( J:196053 )

cellular

abnormal cell physiology ( J:196053 )

• embryonic cells accumulate premature termination codon-containing splice variant transcripts from 9% of genes predicted to contain alternative splicing events capable of eliciting nonsense-mediated mRNA decay

increased embryonic tissue cell apoptosis ( J:196053 )

• in embryos at E12.5

decreased cell proliferation ( J:196053 )

• in embryos at E12.5

growth/size/body

decreased embryo size ( J:196053 )

• at E8.0 and E10.5

craniofacial

absent optic pit ( J:196053 )

• at E8.0, mice lack an optic pit indentation