Cc2d2a^tm1Asw
Targeted Allele Detail

Summary

• Symbol: Cc2d2a^tm1Asw
• Name: coiled-coil and C2 domain containing 2A; targeted mutation 1, Anand Swaroop
• MGI ID: MGI:5708063
• Synonyms: Cc2d2a^-
• Gene: Cc2d2a Location: Chr5:43819715-43898317 bp, + strand Genetic Position: Chr5, 23.78 cM
• Alliance: Cc2d2a^tm1Asw page

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 details: Exons 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)

Disease models

Expression

In Structures Affected by this Mutation:

18 anatomical structure(s)

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: 97 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)