Phenotypes associated with this allele

• Allele Symbol: Pip4p1^{tm1(KOMP)Wtsi}
• Allele Name: targeted mutation 1, Wellcome Trust Sanger Institute
• Allele ID: MGI:4419980
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pip4p1^tm1(KOMP)Wtsi/Pip4p1^tm1(KOMP)Wtsi	involves: C57BL/6N	MGI:6358638

Genotype
MGI:6358638

hm1

• Allelic Composition: Pip4p1^{tm1(KOMP)Wtsi}/Pip4p1^{tm1(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:274778 )

• no homozygotes are born

embryo

embryonic growth arrest ( J:274778 )

• although most homozygotes appear normal at E8.5, they exhibit growth retardation/arrest at E9.5

cellular

abnormal cell physiology ( J:274778 )

• activation of mTORC1 (mammalian/mechanistic target of rapamycin complex 1) in response to amino acids is attenuated in mutant mouse embryonic fibroblasts relative to wild-type cells, as showed by a reduced level of S6K phosphorylation

• the extent of colocalization of Lamp1 and mTOR induced by stimulation with amino acids is less pronounced than in wild-type cells

• expression of HA-TMEM55B in mutant cells partially restores the amino acid-induced recruitment of mTOR to lysosomes