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Gene: Gm2a MGI:95762

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Gene Summary

Name:
GM2 ganglioside activator protein
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating calcium level Gm2aem1(IMPC)H HOM   Early adult 2.78×10-05
increased blood urea nitrogen level Gm2aem1(IMPC)H HOM   Early adult 1.60×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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 Gm2a 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 Gm2a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment ORPHA:309246
Gm2-Gangliosidosis, Ab Variant
Chorea, Dementia OMIM:272750

The table below shows human diseases predicted to be associated to Gm2a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Adamantinoma
Hypercalcemia ORPHA:55881
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... OMIM:614963
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Basal Ganglia Calcification, Idiopathic, 5
Cerebellar calcifications, Chorea, Depression, Athetosis, Dementia, Thalamic calcification, Cogni... OMIM:615483
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Dystonia 30
Impulsivity, Hypothalamic hamartoma, Compulsive behaviors, Aggressive behavior OMIM:619291
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Cereb... OMIM:604213
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Mental deterioration, Thalamic calcification, Cerebellar calcifications, Limb ataxia OMIM:618824
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Impulsivity, Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity... OMIM:618929
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Ataxia, Emotional lability, Hypothalamic atrophy, Lateral ventricle dilatat... ORPHA:2822
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Amoebiasis Due To Free-Living Amoebae
Restlessness, Abnormal medulla oblongata morphology, Ataxia, Confusion, Abnormal cerebellum morph... ORPHA:68
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosu... ORPHA:314621
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:363717
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hypophosphatasia
Hypercalcemia ORPHA:436
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Ataxia, T2 hypointense thalamus, Gait ataxia, Dementia, Cognitive impairment,... ORPHA:1947
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Cach Syndrome
Cerebellar atrophy, Progressive neurologic deterioration, T2 hypointense thalamus, Truncal ataxia... ORPHA:135
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Hypoesthesia, Chorea, Dysmetria, Thalamic calcification, Dysphagia, Mental deterioration,... OMIM:618317
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Attention deficit hyperactivity dis... ORPHA:467166
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... ORPHA:54595
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormal circulating calcium concentration ORPHA:140286
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:617542
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Central Precocious Puberty In Male
Pituitary microadenoma, Hypothalamic hamartoma, Attention deficit hyperactivity disorder, Aggress... ORPHA:649929
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Cerebellar hypoplasia OMIM:619072
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens... ORPHA:70595
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Depression, Dementia, Focal T2 hyperintense thalamic lesion, Progressive lang... ORPHA:79264
Pallister-Hall-Like Syndrome
Chiari type I malformation, Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia OMIM:618440
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia ORPHA:199299
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Neuroferritinopathy
T2 hypointense thalamus, Chorea, Subcortical dementia, Dysphagia, Abnormal thalamic MRI signal in... ORPHA:157846
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ... ORPHA:254881
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ... ORPHA:370959
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Congenital Disorder Of Deglycosylation 2
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Hypothalamic hamartoma, Dy... OMIM:619775
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:95409
Coasy Protein-Associated Neurodegeneration
Cognitive impairment, Abnormal thalamus morphology, Compulsive behaviors ORPHA:397725
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Cerebellar vermis hypoplasia, Partial agenesis of the corpu... ORPHA:300570
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon ORPHA:2570
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Monosomy 13Q34
Hypercalcemia ORPHA:96168
New-Onset Refractory Status Epilepticus
Cerebellar edema, Abnormal thalamic MRI signal intensity, Confusion, Cognitive impairment ORPHA:363558
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Pheochromocytoma
Hypercalcemia OMIM:171300
Neurodevelopmental Disorder With Language Delay And Seizures
Obsessive-compulsive trait, Hypothalamic hamartoma, Attention deficit hyperactivity disorder OMIM:619908
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Memory impairment, Dementia, Disinhibition, T2 hypointense thalamus OMIM:618193
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Ataxia, Abnormal dentate nuc... ORPHA:59315
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Addison Disease
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia ORPHA:85138
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Focal T2 hyperintense thalamic lesion OMIM:613724
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Aceruloplasminemia
Ataxia, Chorea, Abnormal thalamic MRI signal intensity, Limb ataxia, Gait ataxia, Cognitive impai... ORPHA:48818
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, Ataxia, Confusion, Aggressive behavior, Abnormal cerebellum morpholo... ORPHA:83597
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume, Dysphagia OMIM:613668
Colchicine Poisoning
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... ORPHA:31824
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Intermediate Osteopetrosis
Hypocalcemia ORPHA:210110
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:485421
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Ataxia ORPHA:2720
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Leigh Syndrome
Cerebellar atrophy, Ataxia, Progressive neurologic deterioration, Chorea, Abnormal thalamic MRI s... ORPHA:506
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Timothy Syndrome
Hypocalcemia OMIM:601005
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Generalized Pustular Psoriasis
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Tay-Sachs Disease
Cerebellar atrophy, Short attention span, Abnormal thalamic MRI signal intensity, Dysmetria, Depr... ORPHA:845
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Japanese Encephalitis
Anorexia, Paucity of anterior horn motor neurons, Choreoathetosis, Abnormal pons morphology, Foca... ORPHA:79139
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... ORPHA:94093
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Fusion of the left... OMIM:619306
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Ppoma
Hypercalcemia ORPHA:97278
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Somatostatinoma
Hypercalcemia ORPHA:97283
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperacti... ORPHA:435638
Grfoma
Hypercalcemia ORPHA:97261
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Agitation, Ataxia OMIM:619046
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Oral-pharyngeal dysphagia, Abnormal thalamic MRI signal intensity, Distal sensory impairm... ORPHA:254930
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Ataxia, Hypothalamic hamartoma ORPHA:2754
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsive behaviors ORPHA:404440
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypothalamic hamartoma OMIM:277170
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Meningioma
Enlarged pituitary gland, Ataxia, Hypothalamic hypothyroidism, Reduced circulating prolactin conc... ORPHA:2495
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... ORPHA:36234
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia OMIM:617913
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology, Paresthesia, Cognitive impairment ORPHA:2959
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... ORPHA:904
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79443
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Cognitive impairment ORPHA:444013
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Orofaciodigital Syndrome I
Agenesis of corpus callosum, Hypothalamic hamartoma, Cerebellar cyst OMIM:311200
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Sarcoidosis
Hypercalcemia ORPHA:797
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Pearson Syndrome
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Microphthalmia, Syndromic 3
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Hypothalamic hamartoma OMIM:206900
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration ORPHA:466650
Sotos Syndrome
Hypercalcemia ORPHA:821
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Bickerstaff Brainstem Encephalitis
Ataxia, Confusion, Dysesthesia, Impaired proprioception, Abnormal thalamic MRI signal intensity, ... ORPHA:79138
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Pallister-Hall Syndrome
Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma OMIM:146510
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Pallister-Hall Syndrome
Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Pituitary hypothyroidism, Abnorm... ORPHA:672
Norrie Disease
Irritability, Self-injurious behavior, Attention deficit hyperactivity disorder, Aplasia/Hypoplas... ORPHA:649
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Holoprosencephaly 7
Fusion of the left and right thalami, Partial agenesis of the corpus callosum, Agenesis of corpus... OMIM:610828
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Hydranencephaly
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia ORPHA:289176
Hereditary Cryohydrocytosis With Reduced Stomatin
Ataxia, Decreased thalamic volume ORPHA:168577
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage ORPHA:464321
Digeorge Syndrome
Hypocalcemia OMIM:188400
Charge Syndrome
Hypocalcemia OMIM:214800
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment ORPHA:309246
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Gm2-Gangliosidosis, Ab Variant
Chorea, Dementia OMIM:272750

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 Gm2a

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 Gm2a.

No publications found that use IMPC mice or data for Gm2a.

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
Gm2atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gm2atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gm2aem1(IMPC)H Indel Mice
Gm2atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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