Prom1^rd19
Spontaneous Allele Detail

Summary

• Symbol: Prom1^rd19
• Name: prominin 1; retinal degeneration 19
• MGI ID: MGI:5605699
• Gene: Prom1 Location: Chr5:44150962-44259374 bp, - strand Genetic Position: Chr5, 23.97 cM
• Alliance: Prom1^rd19 page

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: BXD83/RwwJ

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Single point mutation
• Mutation details: A single A-to-T transversion (on the negative gene strand; lower case in ATCAAACAGACCaAGGATGCCCTGCAGAAC) changes amino acid 268 from lysine to a stop codon (p.K268*). (J:215591)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Prom1 Mutation: 76 strains or lines available

References

• Original: J:215591 Chang B, et al., Poster 266: A New Mouse Model of Retinal Degeneration (RD19). http://www.iser.org/files/2012_abstracts.pdf. 2012 Biennial Meeting of the International Society for Eye Research. 2012;Poster #266:276-7 (Abstr)
• All: 5 reference(s)