Phenotypes associated with this allele

• Allele Symbol: Pcmt1^tm1Scl
• Allele Name: targeted mutation 1, Steven Clarke
• Allele ID: MGI:2384152
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcmt1^tm1Scl/Pcmt1^tm1Scl	involves: 129S4/SvJae * C57BL/6	MGI:3623341

Genotype
MGI:3623341

hm1

• Allelic Composition: Pcmt1^tm1Scl/Pcmt1^tm1Scl
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

premature death ( J:40967 )

• all homozygotes die by day P60, with most dying suddenly between P22 and p60 (average day of death is 42 days), in the absence of dehydration, malnourishment, or lethargy

• only 4 of >75 homozygotes survive beyond P60, with two found dead at P74, one at P90, and one at P100

• no significant changes in major organ/tissue histology, blood counts, erythrocyte morphology or electrolyte and chemistry are observed

growth/size/body

postnatal growth retardation ( J:40967 )

• at >P20, both male and female homozygotes exhibit growth retardation with significantly reduced body lengths and body mass indices relative to wild-type or heterozygous mice

nervous system

increased susceptibility to pharmacologically induced seizures ( J:40967 )

• in response to a single i.p. injection of metrazol (45 mg/kg), all homozygotes exhibit a major motor seizure, 25% of which are fatal; in contrast, only 2 of 18 heterozygotes exhibit a seizure, neither of which is fatal

tonic-clonic seizures ( J:40967 )

• homozygotes die of generalized seizures, typified by rhythmic clonic movements, tonic extension, and respiratory arrest

• 9 of 11 seizures are fatal; 2 of 11 are nonfatal but mice die within min to hrs from another seizure

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:40967 )

• in response to a single i.p. injection of metrazol (45 mg/kg), all homozygotes exhibit a major motor seizure, 25% of which are fatal; in contrast, only 2 of 18 heterozygotes exhibit a seizure, neither of which is fatal

tonic-clonic seizures ( J:40967 )

• homozygotes die of generalized seizures, typified by rhythmic clonic movements, tonic extension, and respiratory arrest

• 9 of 11 seizures are fatal; 2 of 11 are nonfatal but mice die within min to hrs from another seizure

cellular

abnormal cell physiology ( J:40967 )

• at P30-P40, homozygotes show normal plasma levels of damaged asparaginyl/aspartyl residues; however, high levels of altered asparaginyl/aspartyl residues accumulate in the cytosolic fraction of mutant erythrocytes, heart, and liver, and brain, indicating deficient protein repair

• significantly higher levels of damaged residues accumulate in brain cytosolic proteins relative to other tissues

homeostasis/metabolism

abnormal homeostasis ( J:40967 )

• paradoxically, 4- to 5-week-old homozygotes show a ~30% increase in glutamate uptake into synaptosomes relative to wild-type or heterozygous mice, indicating altered glutamate metabolism