Phenotypes associated with this allele

• Allele Symbol: Pitrm1^{tm1a(KOMP)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:5085349
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pitrm1^tm1a(KOMP)Wtsi/Pitrm1^tm1a(KOMP)Wtsi	C57BL/6N-Pitrm1^tm1a(KOMP)Wtsi/Wtsi	MGI:5631412
ht2	Pitrm1^tm1a(KOMP)Wtsi/Pitrm1^+	C57BL/6N-Pitrm1^tm1a(KOMP)Wtsi/Wtsi	MGI:5811279

Genotype
MGI:5631412

hm1

• Allelic Composition: Pitrm1^{tm1a(KOMP)Wtsi}/Pitrm1^{tm1a(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Pitrm1^{tm1a(KOMP)Wtsi}/Wtsi
• Cell Lines: EPD0824_6_B05

Data Sources

IMPC Data for Pitrm1

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

embryo

abnormal chorion morphology ( J:261316 )

• unpatterned chorion

abnormal placenta morphology ( J:261316 )

• branching morphology defect

abnormal trophoblast layer morphology ( J:261316 )

• small or absent trophoblast compartment

• biased differentiation (diploid/polyploid trophoblast)

abnormal trophoblast giant cell morphology ( J:261316 )

• abnormal trophoblast giant cell size and morphology

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:261316 )

• lethality at E9.5-E10.5

preweaning lethality, complete penetrance ( J:211773 )

IMPC - WTSI

Genotype
MGI:5811279

ht2

• Allelic Composition: Pitrm1^{tm1a(KOMP)Wtsi}/Pitrm1⁺
• Genetic Background: C57BL/6N-Pitrm1^{tm1a(KOMP)Wtsi}/Wtsi
• Cell Lines: EPD0824_6_B05

behavior/neurological

limb grasping ( J:236767 )

• mice develop hindlimb clasping after 2 months of age

abnormal motor coordination/balance ( J:236767 )

♂ • 4 month old males perform poorly in the pole test, a test of basal ganglia-related movement control

ataxia ( J:236767 )

♂ • mice develop progressive ataxia

impaired coordination ( J:236767 )

♂ • mice perform poorly in the rotarod with a shorter latency to fall than wild-type mice at 4 months of age

decreased vertical activity ( J:236767 )

♂ • 4 month old males perform poorly in the cylinder test of rearing

positive geotaxis ( J:236767 )

♂ • mice show poor negative geotaxis performance at 4 months of age

cellular

abnormal cell physiology ( J:236767 )

• mouse embryonic fibroblasts show reduced capacity to degrade amyloid beta peptides

abnormal mitochondrial physiology ( J:236767 )

♂ • isolated brain and liver mitochondria show impaired degradation rate of amyloid beta(1-42)

homeostasis/metabolism

amyloid beta deposits ( J:236767 )

♂ • amyloid deposits are seen in the brains of 4, 6, and 12 month old males

decreased carbon dioxide production ( J:236767 )

♂ • reduction in carbon dioxide production at 4 months of age

decreased oxygen consumption ( J:236767 )

♂ • reduction in oxygen consumption at 4 months of age

decreased basal metabolism ( J:236767 )

♂ • mice show a reduction in heat production over 36 hours of observation

nervous system

amyloid beta deposits ( J:236767 )

♂ • amyloid deposits are seen in the brains of 4, 6, and 12 month old males

gliosis ( J:236767 )

♂ • 12 month old brains show gliosis and accumulation of ubiquitin-positive material in the neuropil and neurons

neuron degeneration ( J:236767 )

♂ • mild neuronal loss at 12 months of age