Phenotypes associated with this allele

• Allele Symbol: Pikfyve^tm1.2Ashi
• Allele Name: targeted mutation 1.2, Assia Shisheva
• Allele ID: MGI:4949709
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pikfyve^tm1.2Ashi/Pikfyve^tm1.2Ashi	involves: C57BL/6	MGI:4949724
ht2	Pikfyve^tm1.2Ashi/Pikfyve^+	involves: C57BL/6	MGI:4949725

Genotype
MGI:4949724

hm1

• Allelic Composition: Pikfyve^tm1.2Ashi/Pikfyve^tm1.2Ashi
• Genetic Background: involves: C57BL/6

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

mortality/aging

embryonic lethality before implantation, complete penetrance ( J:171129 )

• all mice die during the preimplantation period prior to 32-64 cell stage

embryonic lethality before implantation, incomplete penetrance ( J:171129 )

• fewer than expected mice are present at E3.5

embryo

abnormal blastocyst morphology ( J:171129 )

• preimplantation embryos are morbid with increased cellular fragmentation and reduced cells numbers in the inner cell mass and trophectoderm compared with wild-type embryos

abnormal blastocoele morphology ( J:171129 )

• embryos either fail to cavitate or fail to maintain the blastocoel unlike wild-type mice

absent blastocoele ( J:171129 )

• in some embryos

abnormal inner cell mass morphology ( J:171129 )

• fewer cells are present in the inner cell mass than in wild-type embryos

• inner cell mass cells exhibit vacuolation unlike in wild-type embryos

abnormal trophectoderm morphology ( J:171129 )

• fewer cells are present in the trophectoderm than in wild-type embryos

Genotype
MGI:4949725

ht2

• Allelic Composition: Pikfyve^tm1.2Ashi/Pikfyve⁺
• Genetic Background: involves: C57BL/6

cellular

abnormal cell morphology ( J:171129 )

• mouse embryonic fibroblasts exhibit decreased steady-state levels of PtdIns(3,5)P2 and PtdIns5P compared with wild-type cells