Gene Summary

myotubularin related protein 14

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 amylase level Mtmr14tm1a(KOMP)Wtsi HOM Early adult 4.42×10-05
increased startle reflex Mtmr14tm1a(KOMP)Wtsi HOM Early adult 5.67×10-06
decreased circulating calcium level Mtmr14tm1a(KOMP)Wtsi HOM Early adult 1.20×10-08

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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.

Phenotype associated images not available

Human diseases caused by Mtmr14 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 Mtmr14 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Mtmr14 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Increased mus... OMIM:123320
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced muscle fatigue, Exercise-induced myalgia, Myalgia, Limb muscle weakness ORPHA:45
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Increased muscle fatiguability, Skeletal muscle atrophy, Myopathy, Exercise-induc... OMIM:615511
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Myotonia of the face, Percussion myotonia, Handgrip myotonia, Myoto... ORPHA:684
Myotonia Congenita, Autosomal Dominant
Skeletal muscle hypertrophy, Percussion myotonia, Handgrip myotonia, EMG: myotonic runs, Myotonia... OMIM:160800
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Corticosteroid-Binding Globulin Deficiency
Hypotension, Increased muscle fatiguability, Fatigue, Hypertension OMIM:611489
Rippling Muscle Disease 2
Muscle mounding, Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contraction... OMIM:606072
Distal Myopathy, Tateyama Type
Palpitations, EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic h... ORPHA:488650
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Percussion myotonia, Skeletal muscle fibrosis, Rimmed vacuoles,... ORPHA:34516
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Truncal ataxia, Chorea, Limb-girdle muscular dystrophy, Exercise-induced muscle fatigue, Myopathy... ORPHA:369847
Hypercalcemia ORPHA:55881
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Percussion myotonia, Muscle hypertrophy of the lower extremities, EM... OMIM:255700
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Rippling Muscle Disease 1
Skeletal muscle hypertrophy, Exercise-induced myalgia, Percussion-induced rapid rolling muscle co... OMIM:600332
Zebra Body Myopathy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Handgrip myotonia, Torticollis, Aut... ORPHA:97240
Partial Atrioventricular Septal Defect
Palpitations, Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Angina pect... ORPHA:1330
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Percussion myotonia, Postexertional ... OMIM:619040
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Increased muscle fatiguability, Myopathy, Gait ataxia OMIM:613077
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Camptodactyly of finger, Intrinsic hand muscle atrophy, Paresthesia, Peroneal muscle atrophy, Han... ORPHA:324442
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contracture, Proximal... ORPHA:98855
Dimethylglycine Dehydrogenase Deficiency
Fish odor, Increased muscle fatiguability ORPHA:243343
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Myotonia, Foot dorsiflexor weakness, Distal sensory impairment, Skeletal muscle atrophy OMIM:137200
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contracture, Proximal... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contracture, Proximal... ORPHA:261
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Exercise-induced muscle fatigue, Rhabdomyolysis, Myalgia ORPHA:2364
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Paramyotonia Congenita Of Von Eulenburg
Skeletal muscle hypertrophy, Percussion myotonia, Handgrip myotonia, Paradoxical myotonia, Myalgia OMIM:168300
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contracture, Proximal... ORPHA:98863
Dimethylglycine Dehydrogenase Deficiency
Fish odor, Increased muscle fatiguability OMIM:605850
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Exercise-induced muscle fatigue, Rhabdomyolysis, Ataxia, Myopathy, Exercise-induced myalgia ORPHA:713
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Exercise-induced mus... ORPHA:681
Pure Mitochondrial Myopathy
Scapular winging, Proximal amyotrophy, Exercise-induced muscle fatigue, Quadriceps muscle weaknes... ORPHA:254854
Stormorken Syndrome
Increased muscle fatiguability, Myopathy, Myalgia, Epistaxis OMIM:185070
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Myotonia, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, ... OMIM:310440
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia, Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Muscular Dystrophy, Barnes Type
Myotonia, Muscular dystrophy, Myopathy OMIM:158800
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia, Skeletal muscle atrophy OMIM:254950
Myotonia Fluctuans
Myotonia of the face, Myotonia of the lower limb, Handgrip myotonia, Myotonia of the upper limb, ... ORPHA:99734
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... ORPHA:353
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Multiple Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Scapular winging, Increased intramyocellular lipid droplets, Abnormal heart morpholog... ORPHA:26791
Erythrocyte Lactate Transporter Defect
Exercise-induced muscle fatigue OMIM:245340
Hyperkalemic Periodic Paralysis
Arrhythmia, Paresthesia, Skeletal muscle hypertrophy, Flexion contracture, Bowel incontinence, My... ORPHA:682
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Xp21 Deletion Syndrome
Decreased muscle mass, Increased muscle fatiguability, Calf muscle hypertrophy, Myopathy, Exercis... ORPHA:261476
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Acetazolamide-Responsive Myotonia
Myotonia, Skeletal muscle hypertrophy, Chest pain, Myalgia ORPHA:99736
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia, Skeletal muscle hypertrophy, Firm muscles OMIM:255710
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Myotonia, Potassium-Aggravated
Myotonia, Skeletal muscle hypertrophy, Myalgia OMIM:608390
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Myotonic Dystrophy 2
Palpitations, Myotonia, Type 2 muscle fiber atrophy, Tachycardia, Myalgia OMIM:602668
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Myotonia Permanens
Skeletal muscle hypertrophy, Myotonia, Chest pain, Myalgia, Generalized muscle hypertrophy ORPHA:99735
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Skeletal muscle hypertrophy, Handgrip myotonia, Myotonia of the upper limb... ORPHA:3101
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Spastic Paraplegia 79, Autosomal Recessive
Myotonia, Dysmetria, Flexion contracture, Ataxia OMIM:615491
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Chest pain, Exercise-induced muscle fatigue, Orthostatic syncope, Fatigu... ORPHA:230
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Episodic Ataxia, Type 2
Myotonia, Progressive cerebellar ataxia, Episodic ataxia, Paresthesia OMIM:108500
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Episodic Ataxia Type 1
Myotonia, Calf muscle hypertrophy, Choreoathetosis ORPHA:37612
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Timothy Syndrome
Hypocalcemia OMIM:601005
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Myotonia, First degree atrioventricular block, Facial diplegia OMIM:160900
Thyrotoxic Periodic Paralysis
Palpitations, Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Exerci... ORPHA:79102
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia OMIM:175500
Thomsen And Becker Disease
Myotonia ORPHA:614
Myotonic Myopathy With Cylindrical Spirals
Percussion myotonia OMIM:160990
Normokalemic Periodic Paralysis
Myotonia OMIM:170600
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia OMIM:244460
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia ORPHA:53
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentra... ORPHA:94093
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle hypertrophy, Flexion contracture of toe, Myotonia, Wrist flexion contracture, Ske... OMIM:255800
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79444
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Stuve-Wiedemann Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Flexion contracture of toe, ... OMIM:601559
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Non-Functioning Paraganglioma
Tremor, Hypercalcemia ORPHA:94080
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoalbuminemia, Hypo... ORPHA:37042
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Hypercalcemia ORPHA:436
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79443
Lipodystrophy, Congenital Generalized, Type 4
Muscle mounding, Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contracture, Atrial fib... OMIM:613327
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Arrhythmia, Skeletal muscle hypertrophy, Flexion contracture ... ORPHA:800
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Steinert Myotonic Dystrophy
Cardiac conduction abnormality, Handgrip myotonia, Pelvic girdle muscle weakness, Shoulder girdle... ORPHA:273
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial septal defect, Chest pain, Abnormal endocardium morphology, Imperforate tricus... ORPHA:1880
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia OMIM:613658
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia, Facial hypotonia, Ataxia ORPHA:438216
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:466650
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Hypokalemia, Hyperalaninemia, Hypomagnesemia ORPHA:699
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Gitelman Syndrome
Hypomagnesemia, Hypocalcemia, Hypermagnesemia, Hypokalemia ORPHA:358
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Tremor ORPHA:667
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Hypercalcemia ORPHA:276621
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Hypercalcemia ORPHA:476126
22Q11.2 Deletion Syndrome
Hypocalcemia ORPHA:567
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:95409
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Centrally nucleat... OMIM:160150
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Hypercalcemia ORPHA:29072
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Hypercalcemia ORPHA:98292
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia ORPHA:99878
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Addison Disease
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:85138
Hypercalcemia OMIM:171300
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Digeorge Syndrome
Hypocalcemia OMIM:188400
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:99880
Parathyroid Carcinoma
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:143
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Charge Syndrome
Hypocalcemia OMIM:214800
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Hypokalemia, Hypercalcemia ORPHA:97282
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Hypercalcemia ORPHA:97278
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Tay-Sachs Disease
Tremor, Exaggerated startle response, Increased serum beta-hexosaminidase ORPHA:845
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Hypercalcemia ORPHA:97283
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Hypercalcemia ORPHA:97261
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Urinary incontinence, P... ORPHA:169189
Williams Syndrome
Elevated circulating creatine kinase concentration, Tremor, Hypercalcemia, Abnormal circulating l... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response ORPHA:521426
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Hypercalcemia ORPHA:797
Sotos Syndrome
Tremor, Hypercalcemia ORPHA:821
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Exaggerated startle response ORPHA:438213


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 Mtmr14

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 Mtmr14.

No publications found that use IMPC mice or data for Mtmr14.

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MGI Allele Allele Type Produced
Mtmr14tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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