Phenotypes associated with this allele

• Allele Symbol: Pnkp^tm1Pmc
• Allele Name: targeted mutation 1, Peter J McKinnon
• Allele ID: MGI:5795742
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pnkp^tm1Pmc/Pnkp^tm1Pmc	involves: 129S1/Sv * C57BL/6	MGI:5795762

Genotype
MGI:5795762

hm1

• Allelic Composition: Pnkp^tm1Pmc/Pnkp^tm1Pmc
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

cellular

increased brain apoptosis ( J:226703 )

• substantial apoptosis is seen in the brain from E13.5

• E13.5 neocortex shows increased DNA damage and associated apoptosis

decreased cell proliferation ( J:226703 )

• reduction in proliferating cells in both the apical and basal progenitor populations in E13.5 neocortex

abnormal DNA repair ( J:226703 )

• quiescent primary mouse embryonic fibroblasts (MEFs) show a DNA repair defect after camptothecin, after ionizing radiation, and methyl methanesulfonate

• MEFs are more defective in repair of ionizing radiation or methyl methanesulfonate damage compared with camptothecin

abnormal double-strand DNA break repair ( J:226703 )

• DNA double strand breaks after ionizing radiation or bleomycin are increased indicating DNA repair defects

abnormal single-strand DNA break repair ( J:226703 )

• MEFs show defects in the repair of hydrogen peroxide-induced damage

growth/size/body

microcephaly ( J:226703 )

homeostasis/metabolism

abnormal DNA repair ( J:226703 )

• quiescent primary mouse embryonic fibroblasts (MEFs) show a DNA repair defect after camptothecin, after ionizing radiation, and methyl methanesulfonate

• MEFs are more defective in repair of ionizing radiation or methyl methanesulfonate damage compared with camptothecin

abnormal double-strand DNA break repair ( J:226703 )

• DNA double strand breaks after ionizing radiation or bleomycin are increased indicating DNA repair defects

abnormal single-strand DNA break repair ( J:226703 )

• MEFs show defects in the repair of hydrogen peroxide-induced damage

nervous system

increased brain apoptosis ( J:226703 )

• substantial apoptosis is seen in the brain from E13.5

• E13.5 neocortex shows increased DNA damage and associated apoptosis

decreased brain size ( J:226703 )

abnormal cerebellar cortex morphology ( J:226703 )

• reduction in cortical size

small cerebellum ( J:226703 )