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Allele : Pdgfrb<redeye> platelet derived growth factor receptor, beta polypeptide; red eye

Primary Identifier  MGI:5617727 Allele Type  Chemically induced (ENU)
Attribute String  Hypomorph Gene  Pdgfrb
Strain of Origin  BALB/cAnN Is Recombinase  false
Is Wild Type  false
molecularNote  A T to C mutation was identified at position +2 of intron 6. This results in retention of intron 6 in the transcript and 23 novel amino acids followed by a premature stop codon. RT-PCR analysis showed that homozygous mutant eyes contain only ~25% of wild-type mRNA levels. Immunoblot analysis confirmed decreased protein level in mutant retinae and kidneys, indicating that this is a hypomorphic allele.
  • mutations:
  • Single point mutation
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele