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Gene: Tbc1d30 MGI:1921944

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Gene Summary

Name:
TBC1 domain family, member 30
Synonyms:
4930505D03Rik

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
abnormal coat/ hair morphology Tbc1d30em1(IMPC)J HOM Early adult 1.57×10-05
hyperactivity Tbc1d30em1(IMPC)J HOM   Early adult 3.84×10-14
increased exploration in new environment Tbc1d30em1(IMPC)J HOM   Early adult 2.57×10-05
abnormal behavior Tbc1d30em1(IMPC)J HOM Early adult 3.56×10-07
decreased thigmotaxis Tbc1d30em1(IMPC)J HOM Early adult 3.56×10-07
increased circulating calcium level Tbc1d30em1(IMPC)J HOM   Early adult 3.38×10-05

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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.

X-ray

XRay Images Forepaw

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Tbc1d30 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 Tbc1d30 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Glycine Encephalopathy 1
Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Hypophosphatasia
Hypercalcemia, Irritability ORPHA:436
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
Rhabdoid Tumor
Hypercalcemia, Irritability ORPHA:69077
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Hartnup Disorder
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Phenylketonuria
Depression, Fair hair, Self-mutilation, Irritability, Maternal hyperphenylalaninemia, Attention d... OMIM:261600
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Irritability, Anorexia OMIM:241500
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Oculoskeletodental Syndrome
Abnormality of the frontal hairline, Hypercalcemia, Hypocalcemia ORPHA:557003
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Co... ORPHA:476126
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Irritability, Hypoca... ORPHA:36913
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cognitive impairment ORPHA:172
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Depression OMIM:600740
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Lennox-Gastaut Syndrome
Aggressive behavior, Hyperactivity, Mental deterioration, Irritability ORPHA:2382
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Hypercalcemia, Increased blood urea nitrogen, Progressive psychomotor deterioration ORPHA:251004
Landau-Kleffner Syndrome
Depression, Memory impairment, Short attention span, Emotional lability, Aggressive behavior, Att... ORPHA:98818
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Hypertriglyceridemia OMIM:615924
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Polydipsia OMIM:617994
Infantile Myofibromatosis
Abnormal hair morphology, Hypercalcemia ORPHA:2591
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Hyperparathyroidism, Neonatal Severe
Polydipsia, Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Alpha-Heavy Chain Disease
Alopecia, Hypocalcemia ORPHA:100025
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Oculoskeletodental Syndrome
Low posterior hairline, Hypercalcemia, Hypocalcemia, Low anterior hairline OMIM:618440
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irritability, Hypocalcemic seiz... ORPHA:94089
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Salt craving, Sparse axillary hair, Anorexia, Hyperkalemia, Hypercal... ORPHA:95409
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Hypomagnesemia, Hypocalcemia, Nail dystrophy, Hypokalemia, Anorexia OMIM:175500
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity, Synophrys OMIM:615541
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity, Hypopigmentation of hair ORPHA:411515
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
2P21 Microdeletion Syndrome
Long eyelashes, Hypocalcemia ORPHA:163693
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia, Anorexia ORPHA:199299
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypotonia-Cystinuria Syndrome
Polyphagia, Long eyelashes, Hypocalcemia OMIM:606407
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Abnormal circulating porphyrin concentrati... ORPHA:100924
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Monosomy 13Q34
Hypercalcemia, Horizontal eyebrow ORPHA:96168
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Addison Disease
Hyperuricemia, Hyponatremia, Salt craving, Sparse axillary hair, Anorexia, Hyperkalemia, Hypercal... ORPHA:85138
Hyperlysinemia, Type I
Hypoornithinemia, Short attention span, Hyperlysinemia, Hyperactivity, Cognitive impairment OMIM:238700
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cognitive impairment OMIM:612462
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Ab... ORPHA:247585
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620242
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Mental deterioration, Long eyelashes, Inappropriate laughter, Hypocalcemia, Cognitive impairment OMIM:618476
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Autosomal Dominant Hypocalcemia
Alopecia, Depression, Hyperphosphatemia, Hypomagnesemia, Emotional lability, Hypocalcemia ORPHA:428
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Irritability OMIM:264700
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent hand flapping, Short att... ORPHA:449291
Mucopolysaccharidosis, Type Iiib
Coarse hair, Hirsutism, Aggressive behavior, Hyperactivity, Progressive neurologic deterioration,... OMIM:252920
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Graves Disease
Polyphagia, Hyperactivity, Irritability OMIM:275000
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Pseudohypoparathyroidism Type 1C
Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Irritability, Polyph... ORPHA:79444
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Glucagonoma
Depression, Hypercalcemia, Anorexia ORPHA:97280
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Pheochromocytoma
Hypercalcemia OMIM:171300
Colchicine Poisoning
Alopecia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blo... ORPHA:31824
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Cholera
Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Vipoma
Hypokalemia, Hypercalcemia, Anorexia ORPHA:97282
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Progressive languag... OMIM:610042
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Cogn... ORPHA:43
Ppoma
Hypercalcemia, Anorexia ORPHA:97278
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Dahlberg-Borer-Newcomer Syndrome
Generalized hirsutism, Hypocalcemia ORPHA:1563
Somatostatinoma
Hypercalcemia, Anorexia ORPHA:97283
X-Linked Agammaglobulinemia
Alopecia, Hypocalcemia ORPHA:47
Grfoma
Hypercalcemia, Anorexia ORPHA:97261
Multiple Endocrine Neoplasia Type 1
Depression, Confusion, Short attention span, Anorexia, Hypercalcemia ORPHA:652
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hypophosphatemia, Hypocalcemia ORPHA:93160
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Irritability ORPHA:289157
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Pseudohypoparathyroidism Type 1A
Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Irritability, Polyph... ORPHA:79443
Ethylene Glycol Poisoning
Confusion, Hypocalcemia, Addictive alcohol use, Euphoria, Hyperkalemia ORPHA:31826
Celiac Disease, Susceptibility To, 1
Alopecia, Depression, Hypocalcemia OMIM:212750
Timothy Syndrome
Hypocalcemia OMIM:601005
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Velocardiofacial Syndrome
Aggressive behavior, Emotional lability, Hypocalcemia OMIM:192430
Williams Syndrome
Depression, Abnormal circulating lipid concentration, Overfriendliness, Elevated circulating crea... ORPHA:904
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Dysphagia OMIM:617913
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Nail dystrophy, Self-mutilation, Hyperactivity, Sparse scalp hair OMIM:256800
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Hypertrichosis OMIM:235255
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Emotional lability, Abnormal fear-induced behavior, Hirsutism OMIM:219090
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Confusion, Hypocalcemia, Elevated... ORPHA:36234
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Alopecia, Hypomagnesemia, Hypocalcemia, Nail dystrophy, Decreased circulating pr... ORPHA:37042
Williams-Beuren Syndrome
Premature graying of hair, Short attention span, Obsessive-compulsive trait, Attention deficit hy... OMIM:194050
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia, Irritability OMIM:259720
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment OMIM:103580
Argininemia
Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Anorexia OMIM:207800
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Hypocalcemia, Emotional lability, Hair-pulling, Polyp... OMIM:620330
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia, Hypertrichosis ORPHA:1655
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... OMIM:612716
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Cartilage-Hair Hypoplasia
Sparse eyebrow, Sparse hair, Hypocalcemia, Cognitive impairment ORPHA:175
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Sotos Syndrome
Sparse anterior scalp hair, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperc... ORPHA:821
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Thick eyebrow, Hyperactivity OMIM:620047
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Polydipsia, H... OMIM:248250
Sarcoidosis
Alopecia, Hypercalcemia ORPHA:797
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Confusion, Hypocalcemia, Elevated circulating creatine kinase concentration, D... ORPHA:466650
Gitelman Syndrome
Hypermagnesemia, Polydipsia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Salt craving ORPHA:358
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia, Dysphagia ORPHA:699
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Thoracic hypertrichosis, High anterior hairline, Horizontal eyebrow, Sparse scalp hair, Medial fl... OMIM:619503
Liver Disease, Severe Congenital
Dry hair, Increased circulating ferritin concentration, Hyperbilirubinemia, Short attention span,... OMIM:619991
Cranioectodermal Dysplasia 1
Short nail, Fine hair, Hypocalcemia, Slow-growing hair, Sparse hair OMIM:218330
22Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Depression, Hypocalcemia ORPHA:567
Hennekam Syndrome
Sparse axillary hair, Hypocalcemia ORPHA:2136
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture, Hypophosphatemia, Hypocalcemia ORPHA:667
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Digeorge Syndrome
Attention deficit hyperactivity disorder, Hypocalcemia OMIM:188400
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Charge Syndrome
Dysphagia, Hypocalcemia, Self-mutilation OMIM:214800
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Johanson-Blizzard Syndrome
Fair hair, Frontal upsweep of hair, Hypocalcemia, Increased VLDL cholesterol concentration, Hypop... OMIM:243800

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 Tbc1d30

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 Tbc1d30.

No publications found that use IMPC mice or data for Tbc1d30.

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
Tbc1d30tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tbc1d30em1(IMPC)J Exon Deletion Mice
Tbc1d30tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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