Prdm16^csp1
Chemically induced Allele Detail

Summary

• Symbol: Prdm16^csp1
• Name: PR domain containing 16; cleft secondary palate 1
• MGI ID: MGI:3576024
• Synonyms: line 27
• Gene: Prdm16 Location: Chr4:154400582-154721330 bp, - strand Genetic Position: Chr4, 83.96 cM, cytoband E2
• Alliance: Prdm16^csp1 page

Mutation origin

• Strain of Origin: BALB/c

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: This mutation was identified in an ENU mutagenesis screen. A cytosine to adenosine mutation is found within intron 6 at the base-pair position immediately preceding the invariant AG-dinucleotide splice acceptor site. The mutation causes variable skipping of exon 7. The consequence of this aberrant splicing event is a frame-shift leading to premature termination within exon 8 and inclusion of 46 out-of-frame amino acids. No shortened protein is detectable by western analysis, suggesting this mutant peptide is unstable. Full length RNA is detected and extended exposure of western blots of homozygous embryo head nuclear extracts detects protein indicating that this is a hypomorphic allele. (J:157112)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

20 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 Prdm16 Mutation: 73 strains or lines available

Notes

The Ski gene has been excluded as a candidate gene for this mutation.

References

• Original: J:75360 Herron BJ, et al., Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nat Genet. 2002 Feb;30(2):185-9
• All: 6 reference(s)