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Elp1tm1.1Id
Targeted Allele Detail
Nomenclature
Symbol: Elp1tm1.1Id
Name: elongator complex protein 1; targeted mutation 1.1, Ioannis Dragatsis
MGI ID: MGI:5297555
Synonyms: Ikbkapdelta20
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 1 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 (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 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)
Generation of an Ikbkap allele lacking exon 20
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: 30 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:  4 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:  5 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
02/16/2021
MGI 6.16
The Jackson Laboratory