Picalm^fit1-4226SB
Chemically induced Allele Detail

Summary

• Symbol: Picalm^fit1-4226SB
• Name: phosphatidylinositol binding clathrin assembly protein; fitness 1, 4226SB
• MGI ID: MGI:1857818
• Synonyms: fit1^4R, Picalm^fit1-4R
• Gene: Picalm Location: Chr7:89779418-89858655 bp, + strand Genetic Position: Chr7, 50.47 cM
• Alliance: Picalm^fit1-4226SB page

Mutation origin

• Strain of Origin: BALB/cRl

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: PCR amplification and sequencing of cDNA and genomic DNA products from mutants revealed a T to A transversion in the splice donor site immediately following exon 17 that causes the deletion of that exon in all alternatively spliced forms of the mRNA. For each transcript isoform detected, the absence of exon 17 from the mRNA creates a frameshift in the ORF 3' of the missing exon, thereby allowing the incorporation of a few aberrant codons and a premature stop codon. The largest aberrant mRNA isoform is predicted to encode a protein that is truncated at residue 559. (J:84426)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 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 Picalm Mutation: 42 strains or lines available

References

• Original: J:43350 Potter MD, et al., Mutations in the murine fitness 1 gene result in defective hematopoiesis. Blood. 1997 Sep 1;90(5):1850-7
• All: 7 reference(s)