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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Polbtm1Koy
targeted mutation 1, Hideki Koyama
MGI:2386539
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Polbtm1Koy/Polbtm1Koy involves: 129P2/OlaHsd * C57BL/6 MGI:2653068


Genotype
MGI:2653068
hm1
Allelic
Composition
Polbtm1Koy/Polbtm1Koy
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Polbtm1Koy mutation (1 available); any Polb mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes are alive at the expected Mendelian ratio up to E18.5; however, no viable homozygotes are recovered at P1
• after Caesarean section at E18.5, all homozygous mutant neonates die within 15 min

nervous system
• at E12.5, homozygotes exhibit severe neuronal apoptosis in the developing nervous system, with extensive TUNEL-positive and pyknotic cells in the cortex, hindbrain and dorsal root ganglion; in contrast, neither TUNEL-positive nor pyknotic cells are detected in the lungs or liver
• neuronal apoptosis occurs in newly generated post-mitotic neuronal cells and is closely associated with the period between onset and cessation of neurogenesis
• mutant embryos display defective neurogenesis characterized by increased neuronal apoptosis first evident in the dorsolateral region of the cortex at E12.5, after the onset of neurogenesis
• extensive neuronal cell death is still noted at E14.5 but decreases gradually thereafter and disappears almost completely at E18.5
• at E16.5 and E18.5, the mutant dorsolateral cortex is composed of a thin cortical plate as a result of extensive cell death

respiratory system
• in mutant lungs, alveolar air spaces are reduced
• lungs of mutant neonates fail to inflate with air
• all homozygotes die of a respiratory failure immediately after birth

growth/size/body
• all homozygous mutant embryos exhibit growth retardation throughout stages E10.5-E18.5, with an ~30% decrease in body weight after E13.5

homeostasis/metabolism
• all mutant neonates delivered by Caesarean section exhibit cyanosis

behavior/neurological
• all mutant neonates respond to pain stimulus when their tails are pinched with forceps, but they rapidly lose the reflex action within 15 min after Caesarian section

embryo
• all homozygous mutant embryos exhibit growth retardation throughout stages E10.5-E18.5, with an ~30% decrease in body weight after E13.5

integument
• all mutant neonates delivered by Caesarean section are pale

cellular
• at E12.5, homozygotes exhibit severe neuronal apoptosis in the developing nervous system, with extensive TUNEL-positive and pyknotic cells in the cortex, hindbrain and dorsal root ganglion; in contrast, neither TUNEL-positive nor pyknotic cells are detected in the lungs or liver
• neuronal apoptosis occurs in newly generated post-mitotic neuronal cells and is closely associated with the period between onset and cessation of neurogenesis
• mutant embryos display defective neurogenesis characterized by increased neuronal apoptosis first evident in the dorsolateral region of the cortex at E12.5, after the onset of neurogenesis
• extensive neuronal cell death is still noted at E14.5 but decreases gradually thereafter and disappears almost completely at E18.5





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory