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Targeted Allele Detail
Symbol: Coiltm1Agm
Name: coilin; targeted mutation 1, A Gregory Matera
MGI ID: MGI:2181054
Gene: Coil  Location: Chr11:88970252-88991613 bp, + strand  Genetic Position: Chr11, 54.34 cM, cytoband D
Germline Transmission:  Earliest citation of germline transmission: J:70593
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 10-kb region spanning exon 2 through the stop codon in exon 7 was replaced by a neomycin selection cassette. The deleted region encoded the nuclear localization signals, serine patches, and a conserved carboxyl terminus. Northern blot analysis using probes corresponding to regions outside of the deleted interval showed the presence of a hybrid mRNA. Sequence analysis of the aberrant transcript showed a cryptic splice junction between exon 1 and the inserted neo gene. Western blot analysis using an antibody raised against the carboxyl terminus showed a lack of normal protein, but could not confirm the absence of an 82 residue peptide putatively translated from the exon 1 fragment. Attempts to generate an antibody for the largely hydrophobic amino terminus were not successful. (J:70593)
View phenotypes and curated references for all genotypes (concatenated display).
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 Coil Mutation:  181 strains or lines available
Original:  J:70593 Tucker KE, et al., Residual Cajal bodies in coilin knockout mice fail to recruit Sm snRNPs and SMN, the spinal muscular atrophy gene product. J Cell Biol. 2001 Jul 23;154(2):293-307
All:  2 reference(s)

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MGI 6.11
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