Aldh7a1^{tm1d(EUCOMM)Hmgu}
Targeted Allele Detail

Summary

• Symbol: Aldh7a1^{tm1d(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: Aldh7a1^{tm1d(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-A^tm1Brd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The 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)

Disease models

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: 40 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)