Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | Notes | References

Symbol:	Prdm16csp1
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:	Prdm16csp1 page

Strain of Origin:

BALB/c

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

20 anatomical structure(s)

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:	72 strains or lines available

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:	5 reference(s)