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Aldh7a1tm1d(EUCOMM)Hmgu
Targeted Allele Detail
Summary
Symbol: Aldh7a1tm1d(EUCOMM)Hmgu
Name: aldehyde dehydrogenase family 7, member A1; targeted mutation 1d, Helmholtz Zentrum Muenchen GmbH
MGI ID: MGI:6491215
Gene: Aldh7a1  Location: Chr18:56657794-56706112 bp, - strand  Genetic Position: Chr18, 30.55 cM
Alliance: Aldh7a1tm1d(EUCOMM)Hmgu page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:298561
Parent Cell Line:  JM8A1.N3 (ES Cell)
Strain of Origin:  C57BL/6N-Atm1Brd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe L1L2_Bact_P cassette was inserted at position 56681275 of Chromosome 18 upstream of the critical exon(s) (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by a neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. A third loxP site is inserted downstream of the targeted exon(s) at position 56682076. The critical exon 6 is thus flanked by loxP sites. Flp-mediated recombination removed the lacZ and neomycin resistance gene and subsequent cre-mediated recombination deleted exon 6 generating a knockout mouse. Western blot analysis of brain and kidney confirmed absence of protein in homozygotes. (J:298561)
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: 1 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 Aldh7a1 Mutation:  42 strains or lines available
References
Original:  J:298561 Al-Shekaili HH, et al., A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency. Hum Mol Genet. 2020 Nov 25;29(19):3266-3284
All:  1 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
11/12/2024
MGI 6.24
The Jackson Laboratory