Pdgfrb^redeye
Chemically induced Allele Detail

Summary

• Symbol: Pdgfrb^redeye
• Name: platelet derived growth factor receptor, beta polypeptide; red eye
• MGI ID: MGI:5617727
• Gene: Pdgfrb Location: Chr18:61178222-61218133 bp, + strand Genetic Position: Chr18, 34.41 cM
• Alliance: Pdgfrb^redeye page

Mutation origin

• Strain of Origin: BALB/cAnN

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: 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. (J:199483)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pdgfrb Mutation: 84 strains or lines available

References

• Original: J:199483 Jadeja S, et al., A CNS-specific hypomorphic Pdgfr-beta mutant model of diabetic retinopathy. Invest Ophthalmol Vis Sci. 2013 May;54(5):3569-78
• All: 2 reference(s)