Phenotypes associated with this allele

• Allele Symbol: Mboat7^{tm1a(KOMP)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4363399
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mboat7^tm1a(KOMP)Wtsi/Mboat7^tm1a(KOMP)Wtsi	involves: C57BL/6 * C57BL/6N	MGI:5510874

Genotype
MGI:5510874

hm1

• Allelic Composition: Mboat7^{tm1a(KOMP)Wtsi}/Mboat7^{tm1a(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6 * C57BL/6N
• Cell Lines: EPD0094_4_C11

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

Small size and domed head in Mboat7^{tm1a(KOMP)Wtsi}/Mboat7^{tm1a(KOMP)Wtsi} mice

mortality/aging

lethality, incomplete penetrance ( J:199847 )

• fewer than expected live births

premature death ( J:199847 )

• mice do not survive for more than 2 to 4 weeks

postnatal lethality, incomplete penetrance ( J:199847 )

• mice do not survive for more than 2 to 4 weeks

behavior/neurological

lethargy ( J:199847 )

abnormal eating behavior ( J:199847 )

• difficulties in feeding

abnormal pilomotor reflex ( J:199847 )

abnormal gait ( J:199847 )

• unsteady

craniofacial

domed cranium ( J:199847 )

• deformed, domed-shaped head

homeostasis/metabolism

abnormal lipid homeostasis ( J:199847 )

• liver and brain contain relatively less C38:4 species of each phosphoinositide class (PtdIns, PtdInsP and PtdInsP2), reduced C38:4 phosphatidylcholine and phosphatidylethanolamine levels, increased levels of C18:0 lyso-PtdIns and PtdInsP3 compared with wild-type mice

• however, mice exhibit normal levels of all other molecular species of PC, PE, PS and PA

growth/size/body

decreased body size ( J:199847 )

skeleton

domed cranium ( J:199847 )

• deformed, domed-shaped head