Picalm^fit1-4397SB
Chemically induced Allele Detail

Summary

• Symbol: Picalm^fit1-4397SB
• Name: phosphatidylinositol binding clathrin assembly protein; fitness 1, 4397SB
• MGI ID: MGI:1857819
• Synonyms: fit1^5R, Picalm^fit1-5R
• Gene: Picalm Location: Chr7:89778711-89858655 bp, + strand Genetic Position: Chr7, 50.47 cM
• Alliance: Picalm^fit1-4397SB 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 hemizygous for this allele revealed a T to A transversion in the splice donor site immediately following exon 4 and deletion of that exon from the mRNA. The absence of exon 4 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 aberrant mRNA is predicted to encode a protein that is truncated at residue 116 and can be detected by amplification of smaller-than-normal RT-PCR products from homozygous or hemizygous mutants. (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: 5 reference(s)