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Cc2d2atm1Asw
Targeted Allele Detail
Nomenclature
Symbol: Cc2d2atm1Asw
Name: coiled-coil and C2 domain containing 2A; targeted mutation 1, Anand Swaroop
MGI ID: MGI:5708063
Synonyms: Cc2d2a-
Gene: Cc2d2a  Location: Chr5:43662346-43740972 bp, + strand  Genetic Position: Chr5, 23.78 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:226310
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 6 to 8, shared by all spicing variants of the expressed transcripts, were replaced with a targeting vector containing a beta-gal reporter and a neomycin selection cassette. RT-PCR analysis revealed absence of mRNA transcripts in lung, liver, fore- and hindlimb tissues from newborn (P0) homozygous mutant mice. Immunoblot analysis confirmed the absence of encoded protein in E14 homozygous mutant embryos. (J:226310)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 17 anatomical structures
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 Cc2d2a Mutation:  7 strains or lines available
References
Original:  J:226310 Veleri S, et al., Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis. Nat Commun. 2014;5:4207
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/10/2018
MGI 6.12
The Jackson Laboratory