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Allele : Pycr2<m1J> pyrroline-5-carboxylate reductase family, member 2; mutation 1, Jackson

Primary Identifier  MGI:5502703 Allele Type  Chemically induced (ENU)
Attribute String  Null/knockout Gene  Pycr2
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  Analysis of exome sequencing for this mutation showed a c.2T>C single nucleotide substitution at position GRCm39:chr1:g.180732030T>C, changing the start codon to a threonine codon (p.Met1Thr). Western blot analysis demonstrated absence of protein in the brain and spinal cord of homozygous mutant mice.
  • mutations:
  • Single point mutation
  • synonyms:
  • Pycr2<->,
  • Pycr2<->
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories