Phenotypes associated with this allele

• Allele Symbol: Pcsk1^tm1Mbi
• Allele Name: targeted mutation 1, Majambu Mbikay
• Allele ID: MGI:3714927
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcsk1^tm1Mbi/Pcsk1^tm1Mbi	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N	MGI:3715032
ht2	Pcsk1^tm1Mbi/Pcsk1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N	MGI:3715033

Genotype
MGI:3715032

hm1

• Allelic Composition: Pcsk1^tm1Mbi/Pcsk1^tm1Mbi
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

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

mortality/aging

embryonic lethality before implantation, complete penetrance ( J:122555 )

• homozygous embryos are observed in significant numbers at the 1-cell (31%) and 2-cell (19%) stages, but is below 5% at 4- and 8-cell stages, and is 0% at later stages

• when fertilized eggs from heterozygous crosses are cultured, by day 5, 94% of homozygous embryos reach the blastocyst stage compared to 86% for wild-type embryos. Homozygous embryos show a delay in reaching morula stage by day 3, but catch up on day 4 and start growing slightly faster than wild-type on days 5 and 6

Genotype
MGI:3715033

ht2

• Allelic Composition: Pcsk1^tm1Mbi/Pcsk1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * FVB/N

growth/size/body

slow postnatal weight gain ( J:122555 )

• after 13 weeks on a low fat diet, females show less weight gain (9%) than wild-type females (26%); male heterozygotes gain a comparable amount of weight as wild-type mice

increased susceptibility to diet-induced obesity ( J:122555 )

• on a high fat diet, female heterozygotes gain 43% more weight on a high fat diet compared to a 9% weight gain on a low fat diet; both heterozygous and wild-type males show more weight gain (40%) than shown when on low fat diet (~23%)

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:122555 )

N • no significant differences are seen between heterozygous and wild-type mice in fasting glycemia after 13 weeks of low fat or high fat diet, or in glycemic response to intraperitoneal glucose injection

increased susceptibility to diet-induced obesity ( J:122555 )

• on a high fat diet, female heterozygotes gain 43% more weight on a high fat diet compared to a 9% weight gain on a low fat diet; both heterozygous and wild-type males show more weight gain (40%) than shown when on low fat diet (~23%)

reproductive system

transmission ratio distortion ( J:122555 )

• frequency of mutant allele among surviving embryos (after implantation to weaning age) is consistently >80%, instead of the expected 66.7%