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Gene: Aldh7a1 MGI:108186

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
aldehyde dehydrogenase family 7, member A1
Synonyms:
Atq1,  D18Wsu181e

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Aldh7a1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Aldh7a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Seizure, Status epilepticus, ... ORPHA:3006

The table below shows human diseases predicted to be associated to Aldh7a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Kifafa Seizure Disorder
Seizure OMIM:245180
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Intellectual Developmental Disorder, X-Linked 88
Seizure OMIM:300852
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
Epilepsy, Nocturnal Frontal Lobe, 1
Focal-onset seizure, Seizure OMIM:600513
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Galactose Epimerase Deficiency
Aminoaciduria, Impairment of galactose metabolism ORPHA:79238
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive
Abnormal glycosylation, Seizure OMIM:615596
Tyrosinemia Type 2
Seizure, Abnormality of amino acid metabolism ORPHA:28378
Fructose And Galactose Intolerance
Seizure, Galactose intolerance, Fructose intolerance OMIM:229500
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Aspartylglucosaminuria
Seizure, Aspartylglucosaminuria, Abnormality of amino acid metabolism ORPHA:93
Classic Homocystinuria
Seizure, Abnormality of amino acid metabolism ORPHA:394
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Abnormality of amino acid metabolism ORPHA:220295
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating vitamin E concentration, Abnormality of amino acid metabolism ORPHA:309854
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Seizure... ORPHA:77296
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Congenital Disorder Of Glycosylation, Type Iio
Abnormal glycosylation, Seizure OMIM:616828
Slc35A2-Cdg
Abnormal glycosylation, Infantile spasms, Precocious puberty, Elevated circulating thyroid-stimul... ORPHA:356961
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation, Small pituitary gland, Generalized tonic seizure OMIM:617395
Stt3B-Cdg
Abnormal glycosylation, Seizure ORPHA:370924
Galactose Mutarotase Deficiency
Impairment of galactose metabolism ORPHA:570422
Congenital Disorder Of Glycosylation, Type Ix
Abnormal glycosylation, Seizure OMIM:615597
Stt3A-Cdg
Abnormal glycosylation, Seizure ORPHA:370921
Fanconi-Bickel Syndrome
Galactose intolerance, Diabetes mellitus, Generalized aminoaciduria ORPHA:2088
Fanconi-Bickel Syndrome
Impairment of galactose metabolism, Generalized aminoaciduria OMIM:227810
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Seizure, Status epilepticus, ... ORPHA:3006
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Fructose Intolerance, Hereditary
Transient aminoaciduria, Seizure, Fructose intolerance OMIM:229600
Developmental And Epileptic Encephalopathy 50
Abnormal glycosylation, Seizure, Status epilepticus OMIM:616457
Parenteral Nutrition-Associated Cholestasis
Abnormal metabolism ORPHA:567983
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Aldh7a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Aldh7a1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency. Human molecular genetics (November 2020) Aldh7a1tm1a(EUCOMM)Hmgu 32969477

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Aldh7a1em1(IMPC)Hmgu Exon Deletion Mice
Aldh7a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aldh7a1em1(IMPC)Marc Deletion Mice
Aldh7a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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