Aldh7a1tm1d(EUCOMM)Hmgu
Targeted Allele Detail
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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
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Alliance: |
Aldh7a1tm1d(EUCOMM)Hmgu page
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Germline Transmission: |
Earliest citation of germline transmission:
J:298561
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Parent Cell Line: |
JM8A1.N3 (ES Cell)
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Strain of Origin: |
C57BL/6N-Atm1Brd
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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Insertion, Intragenic deletion
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Aldh7a1 Mutation: |
42 strains or lines available
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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) |
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