Phenotypes associated with this allele

• Allele Symbol: Pnpla6^tm1Blw
• Allele Name: targeted mutation 1, Carrolee Barlow
• Allele ID: MGI:2655812
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pnpla6^tm1Blw/Pnpla6^tm1Blw	involves: 129S6/SvEvTac * C57BL/6J	MGI:2655813
ht2	Pnpla6^tm1Blw/Pnpla6^+	involves: 129S6/SvEvTac * C57BL/6J	MGI:2655833

Genotype
MGI:2655813

hm1

• Allelic Composition: Pnpla6^tm1Blw/Pnpla6^tm1Blw
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:82791 )

• homozygotes are observed at a reduced frequency after E8; first signs of resorption are evident at E9

• no homozygotes are observed after E11

embryo

embryonic growth arrest ( J:82791 )

• mutant embryos are growth arrested at E10 and E11

embryonic growth retardation ( J:82791 )

• at E9, mutant embryos appear developmentally retarded relative to wild-type embryos

decreased embryo size ( J:82791 )

• at E9, mutant embryos appear runted

abnormal neural tube closure ( J:82791 )

• mutant embryos display abnormal closing of the neural tube

growth/size/body

embryonic growth retardation ( J:82791 )

• at E9, mutant embryos appear developmentally retarded relative to wild-type embryos

decreased embryo size ( J:82791 )

• at E9, mutant embryos appear runted

nervous system

abnormal neural tube closure ( J:82791 )

• mutant embryos display abnormal closing of the neural tube

Genotype
MGI:2655833

ht2

• Allelic Composition: Pnpla6^tm1Blw/Pnpla6⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:82791 )

• heterozygotes exhibit significantly higher mortality rates than wild-type mice after i.p. injection of ethyl octylphosphonofluoridate (EOPF), an organophosphate compound that causes delayed neurotoxicity, at both 6 mg and 10 mg EOPF per kg body weight

• however, no mortality or neuropathological effects are noted in either wild-type or heterozygous mutant mice with 1 mg EOPF per kg body weight

homeostasis/metabolism

increased susceptibility to xenobiotic induced morbidity/mortality ( J:82791 )

• heterozygotes exhibit significantly higher mortality rates than wild-type mice after i.p. injection of ethyl octylphosphonofluoridate (EOPF), an organophosphate compound that causes delayed neurotoxicity, at both 6 mg and 10 mg EOPF per kg body weight

• however, no mortality or neuropathological effects are noted in either wild-type or heterozygous mutant mice with 1 mg EOPF per kg body weight

behavior/neurological

behavior/neurological phenotype ( J:82791 )

N • under baseline conditions, heterozygotes display no gross defects in learning and memory or anxiety relative to wild-type mice

hyperactivity ( J:82791 )

• heterozygotes display higher baseline levels of motor activity than wild-type mice, as determined by total distance traveled and vertical rearing events in an open-field chamber over a 10-day test period

• after exposure to EOPF (1 mg per kg body weight), motor activity is significantly higher in wild-type mice than in heterozygous mutant mice, indicating that even a minor chemical reduction of enzyme activity can lead to hyperactivity

increased vertical activity ( J:82791 )

• under baseline conditions, heterozygotes show a significantly higher number of vertical rearing events than wild-type mice over a 10-day test period in an open-field chamber

• after exposure to EOPF (1 mg per kg body weight), the number of vertical events is significantly higher in wild-type mice than in heterozygous mutant mice

increased locomotor activity ( J:82791 )

• heterozygotes display increased total distance traveled in an open-field chamber over a 10-day test period