Model Description: Exon 2-5 of Aldh7A1 gene was deleted to generate Aldh7A1 knockout mice.
Official Symbol: Aldh7a1
NCBI ID: 110695
MGI ID: 108186
Ensembl ID: ENSMUSG00000053644
Pubmed: Aldh7a1
Human Ortholog: ALDH7A1
Nomenclature
C57BL/6JSmoc-Aldh7A1em1Smoc
Exon
Exon 2-5
Disease
Pyridoxine-Dependent Epilepsy
Disease
Nervous System Disease
KI/KO Gene
Aldh7a1
Synonyms
Atq1, D18Wsu181e
Reference
Sarah A Oppelt 1, Erin M Sennott 2, Dean R Tolan; Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans. Mol Genet Metab. 2015 Mar;114(3):445-50. Al-Shekaili HH, Petkau TL, Pena I, Lengyell TC, Verhoeven-Duif NM, Ciapaite J, Bosma M, van Faassen M, Kema IP, Horvath G, Ross C, Simpson EM, Friedman JM, van Karnebeek C, Leavitt BR, A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency. Hum Mol Genet. 2020 Nov 25;29(19):3266-3284