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Spontaneous Allele Detail
Symbol: Casp4del
Name: caspase 4, apoptosis-related cysteine peptidase; deletion
MGI ID: MGI:5473345
Synonyms: Casp129
Gene: Casp4  Location: Chr9:5308828-5336783 bp, + strand  Genetic Position: Chr9, 2.46 cM, cytoband A1
Strain of Origin:  129P3/J and 129S1/SvImJ and 129S2/SvPas and 129S6/SvEvTac and 129X1/SvJ
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
Mutation detailsRT-PCR confirmed that five 129 substrains (129X1/SvJ, 129S1/SvImJ, 129S2/SvPas, 129S6/SvEvTac and 129P3/J) express a transcript that lacks exon 7 (delta110 isoform). Sequencing identified a 5 bp deletion in exon 7 that results in the fusion of exon 6 and 8, a frame-shift after proline 304 and a stop codon after 5 aberrant amino acids. This deletion is not present in C57BL/6. Western blot analysis confirmed the absence of protein expression in LPS-primed macrophage. (J:193522)
View phenotypes for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Casp4 Mutation:  13 strains or lines available
Original:  J:193522 Kayagaki N, et al., Non-canonical inflammasome activation targets caspase-11. Nature. 2011 Nov 3;479(7371):117-21
All:  11 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.07
The Jackson Laboratory