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Gene: Adh7 MGI:87926

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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:
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
Synonyms:
Adh-3t,  Adt-1,  Adh-3,  Adh3,  Adh4,  Adh3-e,  IV ADH,  Adh3-t,  Adh-3e

Order Alleles

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 Adh7 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adh7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carpal Tunnel Syndrome 1
Reduced circulating vitamin B6 level OMIM:115430
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia, Hypogonadotropic hypogonadism OMIM:615266
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyperinsulinemia, Obesity, Increased serum leptin, Hyposmia OMIM:617885
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia, Delayed puberty OMIM:615271
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Anosmia, Obesity, Absence of pubertal developme... OMIM:610628
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308700
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... OMIM:614842
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulat... OMIM:614897
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Anosmia, Decreased circulati... OMIM:616030
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Decrease... OMIM:614839
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Anosmia, Hypoplasia of the ovary, Decreas... OMIM:618841
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia, Delayed puberty OMIM:274190
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormality of the sense of smell OMIM:146110
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia, Hypogonadism, Delayed puberty OMIM:615270
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Hypogonadotropic hypogonadism, Choanal atresia, Abnormalit... ORPHA:1135
Huntington Disease
Inability to walk, Weight loss, Abnormality of the sense of smell, Gait disturbance, Gait imbalan... ORPHA:399
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Decreased circulating gonadotropin concentration, Hypopla... OMIM:614841
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia, Hypogonadism, Absence of pubertal development OMIM:615267
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Central hypothyroidism, Abn... OMIM:616113
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Small pituitary gland, Delayed puberty, Hyposmia OMIM:612702
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia, Hypogonadotropic hypogonadism, Bifid nose OMIM:614838
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Abnormal circulating vitamin E concentration, Abnormal circulating vitamin A concentration ORPHA:209902
Hypercholanemia, Familial, 2
Low levels of vitamin D OMIM:619256
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Hypergonadotropic hypogonadism OMIM:613724
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Hypogonadism, Short nose, Short nasal septum OMIM:302950
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Diamond-Blackfan Anemia 9
Low levels of vitamin D OMIM:613308
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism OMIM:614858
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Choanal atresia, Anosmia, Delayed puberty, Hyposmia, Agenesis of c... OMIM:147950
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration ORPHA:352641
Bardet-Biedl Syndrome 19
Hyposmia, Hypogonadism, Obesity OMIM:615996
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism OMIM:612370
Peroxisome Biogenesis Disorder 9B
Anosmia, Ataxia, Total anosmia OMIM:614879
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Imerslund-Grasbeck Syndrome 1
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood folate concentration OMIM:261100
Musk, Inability To Smell
Anosmia OMIM:254150
Pancreatic Triacylglycerol Lipase Deficiency
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:309031
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Aural Atresia, Congenital
Hyposmia OMIM:607842
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Absence of pubertal development, Decreased circulating lu... OMIM:614837
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Maternal Uniparental Disomy Of Chromosome 4
Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration, Low l... ORPHA:96180
Joubert Syndrome 36
Molar tooth sign on MRI, Anteverted nares OMIM:618763
Formiminoglutamic Aciduria
Increased blood folate concentration, Abnormality of folate metabolism ORPHA:51208
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, G... ORPHA:52901
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum, Wide nasal bridge ORPHA:166024
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Anosmia, Hypogonadotropic hypogonadism OMIM:244200
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Substantia nigra gliosis OMIM:607060
Joubert Syndrome 25
Molar tooth sign on MRI, Ataxia OMIM:616781
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Anosmia, Gait disturbance, Hyposmia OMIM:606693
Johnson Neuroectodermal Syndrome
Choanal atresia, Bulbous nose, Anosmia, Hypogonadism, Failure to thrive ORPHA:2316
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia, Small pituitary gland OMIM:614880
Gorlin Syndrome
Hypogonadotropic hypogonadism, Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum, Anteverted nares, Wide nasal bridge OMIM:617127
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Anosmia, Obesity, Agenesis of corpus callosum, ... ORPHA:3157
Joubert Syndrome 32
Molar tooth sign on MRI, Depressed nasal bridge, Ataxia, Large for gestational age OMIM:617757
Bardet-Biedl Syndrome 17
Hyposmia, Anosmia, Hypogonadism, Obesity OMIM:615994
Hyperostosis Cranialis Interna
Hyposmia, Anosmia OMIM:144755
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, An... ORPHA:478
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... OMIM:147250
Vitamin D-Dependent Rickets, Type 3
Low serum calcitriol, Decreased circulating calcifediol concentration OMIM:619073
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Thickened superior cereb... OMIM:609583
Diarrhea 6
Vitamin B12 deficiency OMIM:614616
Imerslund-Grasbeck Syndrome 2
Vitamin B12 deficiency OMIM:618882
Joubert Syndrome 28
Molar tooth sign on MRI, Ataxia, Wide nasal bridge OMIM:617121
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Anosmia, Hypogonadotropic hypogonadism, Short nose ORPHA:1295
Abetalipoproteinemia
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:14
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Shwachman-Diamond Syndrome
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:811
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Steppage gait, Anosmia OMIM:601152
Hydrolethalus
Agenesis of corpus callosum, Abnormality of the sense of smell ORPHA:2189
Refsum Disease, Classic
Anosmia, Ataxia OMIM:266500
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Joubert Syndrome 31
Molar tooth sign on MRI, Truncal ataxia OMIM:617761
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Primary Sclerosing Cholangitis
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:171
Superficial Siderosis
Ataxia, Partial anosmia, Unsteady gait, Anosmia, Dysmetria, Limb ataxia, Progressive gait ataxia,... ORPHA:247245
Joubert Syndrome 10
Molar tooth sign on MRI, Wide nasal bridge OMIM:300804
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Anterior hypopituitaris... ORPHA:280195
Meckel Syndrome 13
Molar tooth sign on MRI, Ataxia OMIM:617562
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Joubert Syndrome 40
Molar tooth sign on MRI, Depressed nasal bridge OMIM:619582
Joubert Syndrome 3
Anteverted nares, Ataxia, Wide nasal bridge, Lateral ventricle dilatation, Molar tooth sign on MR... OMIM:608629
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Joubert Syndrome 20
Molar tooth sign on MRI, Inability to walk OMIM:614970
Joubert Syndrome 33
Molar tooth sign on MRI, Ataxia OMIM:617767
Joubert Syndrome 27
Molar tooth sign on MRI, Ataxia, Gait ataxia OMIM:617120
Kleine-Levin Syndrome
Parosmia ORPHA:33543
Riboflavin Deficiency
Low levels of vitamin B2 OMIM:615026
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Intrinsic Factor Deficiency
Malabsorption of Vitamin B12, Vitamin B12 deficiency OMIM:261000
Refsum Disease
Anosmia, Ataxia ORPHA:773
Hereditary Late-Onset Parkinson Disease
Hyposmia, Shuffling gait, Akinesia, Weight loss ORPHA:411602
Autosomal Recessive Polycystic Kidney Disease
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:731
Bile Acid Malabsorption, Primary, 2
Low levels of vitamin D, Decreased circulating vitamin E concentration OMIM:619481
Joubert Syndrome 35
Ataxia, Anteverted nares, Depressed nasal bridge, Molar tooth sign on MRI, Elongated superior cer... OMIM:618161
Slc35A2-Cdg
Failure to thrive in infancy, Abnormal midbrain morphology, Precocious puberty, Inability to walk... ORPHA:356961
Hypercholanemia, Familial 1
Low levels of vitamin K OMIM:607748
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal brainstem M... ORPHA:68
Joubert Syndrome 7
Molar tooth sign on MRI, Hypoplasia of the brainstem, Ataxia, Brainstem dysplasia OMIM:611560
Generalized Eruptive Histiocytosis
Abnormal vitamin B12 level ORPHA:157991
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Low levels of vitamin K ORPHA:565899
Obesity Due To Sim1 Deficiency
Low levels of vitamin B1 ORPHA:369873
Young-Onset Parkinson Disease
Hyposmia, Gait imbalance ORPHA:2828
8Q21.11 Microdeletion Syndrome
Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell ORPHA:284160
Joubert Syndrome 15
Molar tooth sign on MRI, Ataxia OMIM:614464
Coach Syndrome 3
Molar tooth sign on MRI, Ataxia OMIM:619113
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Diabetes mellitus, Anteverted nares, Choanal atresia, Fail... ORPHA:2162
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum, Depressed nasal bridge, Wide nasal bridge OMIM:607131
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Maxillonasal Dysplasia
Low levels of vitamin K ORPHA:1248
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism ORPHA:79302
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Adult Krabbe Disease
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Ab... ORPHA:206448
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Joubert Syndrome With Renal Defect
Anteverted nares, Prominent nasal bridge, Ataxia, Gait disturbance, Molar tooth sign on MRI, Abno... ORPHA:220497
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Hypogonadotropic hypogonadism, Partial anosmia, Delayed puberty ORPHA:2326
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Joubert Syndrome 37
Wide nose, Anteverted nares, Wide nasal bridge, Obesity, Molar tooth sign on MRI OMIM:619185
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Single naris, Absent nares, Hypogonadism, Hyposmia ORPHA:2250
Joubert Syndrome 6
Ataxia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cerebellar pedun... OMIM:610688
Bile Acid Synthesis Defect, Congenital, 6
Low levels of vitamin D OMIM:617308
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:619111
8P11.2 Deletion Syndrome
Depressed nasal bridge, Hypogonadotropic hypogonadism, Anosmia, Hypogonadism, Abnormality of the ... ORPHA:251066
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Inability to walk, Depressed nasal bridge, Ataxia OMIM:617563
Joubert Syndrome With Ocular Defect
Anteverted nares, Prominent nasal bridge, Ataxia, Gait disturbance, Molar tooth sign on MRI, Abno... ORPHA:220493
Moebius Syndrome
Hypogonadotropic hypogonadism, Abnormality of the sense of smell ORPHA:570
Primary Intestinal Lymphangiectasia
Low levels of vitamin D, Abnormality of vitamin metabolism ORPHA:90362
Osteoporosis-Pseudoglioma Syndrome
Low serum calcitriol ORPHA:2788
Joubert Syndrome 18
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614815
Secondary Short Bowel Syndrome
Abnormality of vitamin metabolism ORPHA:95427
Joubert Syndrome 8
Molar tooth sign on MRI, Ataxia, Obesity OMIM:612291
Joubert Syndrome 2
Depressed nasal bridge, Brainstem dysplasia, Ataxia, Hypoplasia of the brainstem, Molar tooth sig... OMIM:608091
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Hypogonadotropic hypogonadism, Delayed puberty OMIM:619718
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia, Obesity, Difficulty walking OMIM:618653
Joubert Syndrome 17
Molar tooth sign on MRI, Ataxia OMIM:614615
Chylomicron Retention Disease
Abnormality of vitamin metabolism ORPHA:71
Joubert Syndrome 16
Molar tooth sign on MRI OMIM:614465
Bile Acid Synthesis Defect, Congenital, 4
Decreased circulating calcifediol concentration, Decreased circulating vitamin E concentration OMIM:214950
Deafness-Hypogonadism Syndrome
Low levels of vitamin B1 ORPHA:90646
Wilson Disease
Hypoparathyroidism, Hyposmia, Face of the giant panda sign OMIM:277900
Classic Galactosemia
Low levels of vitamin D ORPHA:79239
Joubert Syndrome With Oculorenal Defect
Anteverted nares, Prominent nasal bridge, Ataxia, Molar tooth sign on MRI, Abnormality of the hyp... ORPHA:2318
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Ataxia OMIM:609136
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Abnormal blood folate concentration, Decreased CSF 5-methyltetrahydrofolate concentration OMIM:613839
Marchiafava-Bignami Disease
Low levels of vitamin B1 ORPHA:221074
Joubert Syndrome 22
Molar tooth sign on MRI OMIM:615665
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
High serum calcitriol OMIM:600785
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Waardenburg Syndrome, Type 4C
Anosmia, Hypogonadism OMIM:613266
Celiac Disease, Susceptibility To, 1
Vitamin B12 deficiency, Low levels of vitamin D, Reduced blood folate concentration, Low levels o... OMIM:212750
Lead Poisoning
Low levels of vitamin D, Abnormality of vitamin D metabolism ORPHA:330015
Duplication Of The Pituitary Gland
Abnormal pituitary gland morphology, Agenesis of corpus callosum, Abnormal midbrain morphology, D... ORPHA:314621
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
High serum calcitriol, High serum calcifediol OMIM:241530
Joubert Syndrome 14
Molar tooth sign on MRI, Hypoplasia of the brainstem, Ataxia, Prominent nasal bridge OMIM:614424
Congenital Disorder Of Glycosylation, Type Iit
Low levels of vitamin D, Abnormal protein O-linked glycosylation OMIM:618885
Leopard Syndrome 1
Depressed nasal ridge, Hypoplasia of the ovary, Delayed puberty, Hyposmia, Delayed menarche OMIM:151100
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Bosma Arhinia Microphthalmia Syndrome
Anosmia, Hypogonadotropic hypogonadism, Aplasia of the nose, Choanal atresia OMIM:603457
Autosomal Dominant Hypophosphatemic Rickets
Low levels of vitamin D ORPHA:89937
Hyperprolinemia Type 2
Reduced circulating vitamin B6 level ORPHA:79101
Hypobetalipoproteinemia, Familial, 1
Decreased circulating vitamin E concentration OMIM:615558
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Low serum calcitriol, Decreased circulating calcifediol concentration OMIM:264700
Charge Syndrome
Hypogonadotropic hypogonadism, Choanal atresia, Depressed nasal bridge, Aqueductal stenosis, Anos... ORPHA:138
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Abnormal midbrain morphology, Hypoplasia of the pons, Wide nasal bridge, Hypopl... ORPHA:444072
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Decreased circulating calcifediol concentration OMIM:600081
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Abnormal vitamin B12 level ORPHA:544503
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Orofaciodigital Syndrome Type 6
Ataxia, Prominent nasal bridge, Broad nasal tip, Gait disturbance, Molar tooth sign on MRI, Failu... ORPHA:2754
Coach Syndrome 1
Molar tooth sign on MRI, Anteverted nares, Ataxia OMIM:216360
Congenital Bile Acid Synthesis Defect Type 4
Low levels of vitamin K ORPHA:79095
Joubert Syndrome 1
Anteverted nares, Brainstem dysplasia, Ataxia, Hypoplasia of the brainstem, Molar tooth sign on M... OMIM:213300
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... OMIM:619476
Fanconi Renotubular Syndrome 2
High serum calcitriol OMIM:613388
Hereditary Hypophosphatemic Rickets With Hypercalciuria
High serum calcitriol ORPHA:157215
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Abnormality of vitamin D metabolism ORPHA:541423
Imerslund-Gräsbeck Syndrome
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level ORPHA:35858
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Depressed nasal bridge, Lateral ventricle dilatation, Colpocephaly, Molar tooth sign on MRI, Elon... ORPHA:397715
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal midbrain morphology, Choreoathetosis, Abnormal pon... ORPHA:79139
Vitamin D-Dependent Rickets, Type 2A
High serum calcitriol OMIM:277440
Congenital Bile Acid Synthesis Defect Type 2
Decreased circulating vitamin E concentration ORPHA:79303
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
High serum calcitriol OMIM:617994
Refractory Celiac Disease
Low serum calcitriol ORPHA:398063
Pyruvate Dehydrogenase E2 Deficiency
Low levels of vitamin B1 ORPHA:79244
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Abnormal vitamin B12 level, Decreased adenosylcobalamin OMIM:251100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
High serum calcitriol OMIM:211900
Dietary Iron Overload Disease
Low levels of vitamin C ORPHA:139507
Meckel Syndrome, Type 10
Molar tooth sign on MRI OMIM:614175
Hypophosphatemic Rickets, X-Linked Recessive
High serum calcitriol OMIM:300554
Bone Marrow Failure Syndrome 3
Low levels of vitamin D, Decreased circulating vitamin E concentration OMIM:617052
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilatation, Small pituitary gland, M... OMIM:619479
Diamond-Blackfan Anemia 7
Low levels of vitamin D OMIM:612562
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Hypoplasia of the brainstem, Wide nasal bridge, Depressed nasal tip OMIM:619306
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Failure to thrive, Agenesis of corpus callosum, Broad nasal tip OMIM:277170
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Anteverted nares, Abnormal midbrain morphology, Decreased response to growth hormone stimulation ... ORPHA:293987
Joubert Syndrome 39
Molar tooth sign on MRI, Overweight OMIM:619562
Dent Disease 1
High serum calcitriol OMIM:300009
Epidermal Nevus Syndrome
Low levels of vitamin D ORPHA:35125
Ataxia With Vitamin E Deficiency
Decreased circulating vitamin E concentration OMIM:277460
Hypocalcemic Vitamin D-Dependent Rickets
Low serum calcitriol ORPHA:289157
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Eiken Syndrome
Low levels of vitamin D OMIM:600002
Lacrimoauriculodentodigital Syndrome
Anosmia, Choanal atresia ORPHA:2363
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Chondrodysplasia Punctata, Autosomal Dominant
Low levels of vitamin K OMIM:118650
Autosomal Recessive Hypophosphatemic Rickets
Low serum calcitriol, Abnormality of vitamin D metabolism ORPHA:289176
Meckel Syndrome, Type 4
Molar tooth sign on MRI OMIM:611134
Infantile Nephropathic Cystinosis
Abnormality of vitamin D metabolism ORPHA:411629
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating vitamin E concentration, Abnormality of amino acid metabolism ORPHA:309854
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Low levels of vitamin D, Abnormality of vitamin metabolism ORPHA:79408
Transcobalamin Ii Deficiency
Abnormal blood folate concentration OMIM:275350
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Low levels of vitamin D ORPHA:89842
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Hypoplasia of the brainstem, Depressed nasal bridge OMIM:616546
Arima Syndrome
Molar tooth sign on MRI, Hypoplasia of the brainstem, Ataxia, Brainstem dysplasia OMIM:243910
Joubert Syndrome 5
Molar tooth sign on MRI, Ataxia, Thickened superior cerebellar peduncle OMIM:610188
Mucopolysaccharidosis Type 3
Low levels of vitamin D ORPHA:581
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Molar tooth sign on MRI, Prominent nose OMIM:616300
Dent Disease
High serum calcitriol ORPHA:1652
Multiple Myeloma
Abnormality of vitamin B12 metabolism ORPHA:29073
Oculocerebrorenal Syndrome Of Lowe
Low levels of vitamin D ORPHA:534
Juvenile Nephropathic Cystinosis
Low levels of vitamin D ORPHA:411634
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Low levels of vitamin D ORPHA:79259
Meckel Syndrome, Type 1
Molar tooth sign on MRI, Agenesis of corpus callosum, Enlarged naris, Adrenal hypoplasia OMIM:249000
Rajab Interstitial Lung Disease With Brain Calcifications 1
Low levels of vitamin D OMIM:613658
Autosomal Dominant Cutis Laxa
Low levels of vitamin D ORPHA:90348
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Bulbous nose, Partial agenesis of the corpus callosum ORPHA:434179
Autoimmune Lymphoproliferative Syndrome
Abnormal vitamin B12 level ORPHA:3261
Congenital Erythropoietic Porphyria
Low levels of vitamin D ORPHA:79277
Liver Disease, Severe Congenital
Low levels of vitamin D, Decreased circulating vitamin E concentration OMIM:619991
Pearson Syndrome
Malabsorption of Vitamin B12 ORPHA:699
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Low levels of vitamin D ORPHA:438213
Orofaciodigital Syndrome Xiv
Molar tooth sign on MRI, Partial agenesis of the corpus callosum OMIM:615948

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 Adh7

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 Adh7.

No publications found that use IMPC mice or data for Adh7.

Order Mouse and ES Cells

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
Adh7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Adh7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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