Phenotypes associated with this allele

• Allele Symbol: Pycr2^tm1.1Brre
• Allele Name: targeted mutation 1.1, Bruno Reversade
• Allele ID: MGI:6470408
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pycr2^tm1.1Brre/Pycr2^tm1.1Brre	involves: C57BL/6	MGI:6470478

Genotype
MGI:6470478

hm1

• Allelic Composition: Pycr2^tm1.1Brre/Pycr2^tm1.1Brre
• Genetic Background: involves: C57BL/6

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

nervous system

abnormal oligodendrocyte apoptosis ( J:296329 )

• increased apoptosis in corpus callosum and cortical region at age 12 and 20 weeks as indicated by TUNEL assay

• normal in corpus callosum and cortical region at age 4 weeks as indicated by TUNEL assay

increased neuron apoptosis ( J:296329 )

• increased apoptosis in cortical region at age 12 and 20 weeks as indicated by TUNEL assay

• normal in cortical region at age 4 weeks as indicated by TUNEL assay

decreased corpus callosum size ( J:296329 )

♂ • 7% reduction of volume at age 20 and 12% at age 30 weeks

abnormal oligodendrocyte morphology ( J:296329 )

• significant reduction in expression of mature oligodendrocyte markers Cnp and Mbp from age 12 weeks

• normal expression of pre-oligodendrocyte marker Pdgfra at age 12 weeks

abnormal neuron morphology ( J:296329 )

• significant reduction in expression of early neuronal marker Tubb3 in cortical region and hippocampus at age 5 months

• thin neuronal fibers with differentiated neurons after 1 week in culture

impaired neuron differentiation ( J:296329 )

• significant reduction in expression of differentiation marker Map2 at age 4, 12 and 20 weeks

neuron degeneration ( J:296329 )

• significant reduction in expression of early neuronal marker Tubb3 in cortical region and hippocampus at age 5 months

hippocampal neuron degeneration ( J:296329 )

• significant reduction in expression of early neuronal marker Tubb3 in hippocampus at age 5 months

axonal dystrophy ( J:296329 )

• significant increase in App and Syp expression from age 12 weeks

axonal spheroids ( J:296329 )

• increased axonal beading with differentiated neurons after 1 week in culture

behavior/neurological

limb grasping ( J:296329 )

♂ • from age 10 weeks

impaired balance ( J:296329 )

♂ • from age 10 weeks

impaired coordination ( J:296329 )

♂ • from age 10 weeks

cellular

abnormal oligodendrocyte apoptosis ( J:296329 )

• increased apoptosis in corpus callosum and cortical region at age 12 and 20 weeks as indicated by TUNEL assay

• normal in corpus callosum and cortical region at age 4 weeks as indicated by TUNEL assay

increased neuron apoptosis ( J:296329 )

• increased apoptosis in cortical region at age 12 and 20 weeks as indicated by TUNEL assay

• normal in cortical region at age 4 weeks as indicated by TUNEL assay

impaired neuron differentiation ( J:296329 )

• significant reduction in expression of differentiation marker Map2 at age 4, 12 and 20 weeks

growth/size/body

decreased body mass index ( J:296329 )

♂ • from age 10 weeks; 35% reduction at age 40 weeks

weight loss ( J:296329 )

♂ • from age 10 weeks; 40% reduction at age 40 weeks

mortality/aging

premature death ( J:296329 )

homeostasis/metabolism

abnormal amino acid level ( J:296329 )

• normal proline, glutamate, gamma-aminobutyric acid (GABA) and serine metabolis

• normal circulating glycine levels

• significant increase in brain glycine levels

skeleton

kyphosis ( J:296329 )

• from age 20 weeks