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Elp1tm1.1Gilas
Targeted Allele Detail
Nomenclature
Symbol: Elp1tm1.1Gilas
Name: elongator complex protein 1; targeted mutation 1.1, Gil Ast
MGI ID: MGI:5512768
Synonyms: IKBKAPFDloxP
Gene: Elp1  Location: Chr4:56749680-56802331 bp, - strand  Genetic Position: Chr4, 31.66 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:198544
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 20 and its two flanking introns were replaced by the corresponding human sequence, containing a T to C transition at position 6 of intron 20 (IVS+6T>C). This mutation is the most common observed in patients with familial dysautonomia. Flp-mediated recombination removed the neomycin resistance cassette inserted into intron 20. QRT-PCR confirmed elevated expression of a transcript skipping exon 20 in the liver and brain. (J:198544)
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: 6 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:198544 Bochner R, et al., Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model. Hum Mol Genet. 2013 Jul 15;22(14):2785-94
All:  2 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