Phenotypes associated with this allele

• Allele Symbol: Smcr8^{tm1(KOMP)Vlcg}
• Allele Name: targeted mutation 1, Velocigene
• Allele ID: MGI:4452950
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smcr8^tm1(KOMP)Vlcg/Smcr8^tm1(KOMP)Vlcg	involves: 129S1/SvImJ * C57BL/6NTac	MGI:5812683

Genotype
MGI:5812683

hm1

• Allelic Composition: Smcr8^{tm1(KOMP)Vlcg}/Smcr8^{tm1(KOMP)Vlcg}
• Genetic Background: involves: 129S1/SvImJ * C57BL/6NTac

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

cellular

abnormal autophagy ( J:236977 )

• under normal conditions, MEFs derived from E15.5 mutant embryos show a significant increase in LC3-positive puncta numbers per cell relative to wild-type MEFs

• under amino acid starvation, mutant MEFs show a significantly smaller increase in LC3-positive puncta numbers than wild-type MEFs

• after rapamycin treatment, mutant MEFs fail to exhibit a significant increase in LC3-II expression, unlike wild-type MEFs, indicating that autophagy induction is impaired

• mutant MEFs show significant accumulation of LC3-II and p62 (an autophagy substrate) indicating that autophagic flux is impaired

• after leupeptin and pepstatin A (LP) treatment to block lysosomal degradation, mutant MEFs fail to show further accumulation of LC3-II and p62 levels, unlike wild-type MEFs, indicating defects in autophagosome maturation and autophagosome degradation

abnormal lysosome physiology ( J:236977 )

• mutant MEFs show a significant increase in cathepsin D and cathepsin L levels, indicating either an increase in their synthesis or a block in lysosomal degradation

homeostasis/metabolism

abnormal autophagy ( J:236977 )

• under normal conditions, MEFs derived from E15.5 mutant embryos show a significant increase in LC3-positive puncta numbers per cell relative to wild-type MEFs

• under amino acid starvation, mutant MEFs show a significantly smaller increase in LC3-positive puncta numbers than wild-type MEFs

• after rapamycin treatment, mutant MEFs fail to exhibit a significant increase in LC3-II expression, unlike wild-type MEFs, indicating that autophagy induction is impaired

• mutant MEFs show significant accumulation of LC3-II and p62 (an autophagy substrate) indicating that autophagic flux is impaired

• after leupeptin and pepstatin A (LP) treatment to block lysosomal degradation, mutant MEFs fail to show further accumulation of LC3-II and p62 levels, unlike wild-type MEFs, indicating defects in autophagosome maturation and autophagosome degradation

abnormal protein level ( J:236977 )

• mutant MEFs show a significant increase in Ulk1 (an autophagy initiation factor), Atg13 and phosphorylated Ulk1 levels relative to wild-type MEFs

• after rapamycin treatment, mutant MEFs show significantly higher phosphorylated Ulk1 levels than wild-type MEFs, consistent with impaired autophagy induction