|
|
| Nomenclature |
|
Symbol:
|
Ikbkaptm1.1Id
|
|
Name:
|
inhibitor of kappa light polypeptide enhancer in B cells, kinase complex-associated protein;
targeted mutation 1.1, Ioannis Dragatsis
|
|
MGI ID: |
MGI:5297555 |
|
Synonyms: |
Ikbkapdelta20 |
|
Gene:
|
Ikbkap
Location:
Chr4:56749680-56802331 bp, - strand
Genetic Position: Chr4,
31.66 cM
|
|
Cardiovascular and brain malformations in Ikbkaptm1Id/Ikbkaptm1Id and Ikbkaptm1.1Id/Ikbkaptm1.1Id embryos
Show the 1 image(s) involving this allele.
|
 |
|
Mutation origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:178070
|
|
Parent Cell Line:
| W9.5/W95 (ES Cell) |
|
Strain of Origin:
|
129S1/Sv-Oca2+ Tyr+ Kitl+
|
|
Mutation description |
|
Allele
Type: | |
Targeted (knock-out) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
Mutation details: A loxP site was inserted into intron 19 and a floxed neo-stop cassette was inserted into intron 20 via homologous recombination. Cre mediated recombination removed exon 20 and the neo-stop cassette. RT-PCR analysis confirmed the expression of a stable mRNA lacking exon 20. (J:178070)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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 Ikbkap Mutation:
|
8 strains or lines available |
|
| References |
|
Original: |
J:178070
Dietrich P et al.,
"Deletion of exon 20 of the familial dysautonomia gene ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality."
PLoS One 2011;6(10):e27015
|
|
All: |
2 reference(s)
|
|