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Elp1tm1Id
Targeted Allele Detail
Nomenclature
Symbol: Elp1tm1Id
Name: elongator complex protein 1; targeted mutation 1, Ioannis Dragatsis
MGI ID: MGI:5297554
Synonyms: Ikbkap3loxP
Gene: Elp1  Location: Chr4:56749680-56802331 bp, - strand  Genetic Position: Chr4, 31.66 cM
Cardiovascular and brain malformations in Elp1tm1Id/Elp1tm1Id and Elp1tm1.1Id/Elp1tm1.1Id embryos

Show the 2 phenotype 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 (Conditional ready)
Mutation:    Insertion
 
Mutation detailsA loxP site was inserted into intron 19 and a floxed neo-stop cassette was inserted into intron 20 via homologous recombination. RT-PCR analysis confirmed the absence of expression in embryos at E9.5 and E10.5. (J:178070)
Targeted disruption of the mouse Ikbkap gene
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: 33 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 Elp1 Mutation:  6 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:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
12/03/2019
MGI 6.14
The Jackson Laboratory