Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Mtmr14 MGI:1916075

Gene Summary

Name:

myotubularin related protein 14

Synonyms:

1110061O04Rik

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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased lactate dehydrogenase level	Mtmr14^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.37×10^-05
increased startle reflex	Mtmr14^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.77×10^-06
increased circulating alanine transaminase level	Mtmr14^{tm1a(KOMP)Wtsi}	HOM	Early adult	6.76×10^-09
increased circulating aspartate transaminase level	Mtmr14^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.47×10^-05
increased circulating amylase level	Mtmr14^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.02×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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 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.

Human diseases associated with Mtmr14 (2 diseases)
Human diseases predicted to be associated with Mtmr14 (237 diseases)

The table below shows human diseases associated to Mtmr14 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autosomal Dominant Centronuclear Myopathy		Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl...	ORPHA:169189
Myopathy, Centronuclear, 1		Mildly elevated creatine kinase	OMIM:160150

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

Disease	Matching phenotypes	Source
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Proximal Myopathy With Focal Depletion Of Mitochondria	Elevated circulating creatine kinase concentration	OMIM:600706
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Autosomal Recessive Spastic Paraplegia Type 46	Ataxia, Urinary incontinence, Abnormal tendon morphology, Reduced sperm motility, Infertility, Tr...	ORPHA:320391
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag...	OMIM:620356
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l...	ORPHA:399808
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Myotonic Dystrophy 2	Handgrip myotonia, Tachycardia, Myotonia, Elevated circulating creatine kinase concentration, Oli...	OMIM:602668
Xp21 Deletion Syndrome	Increased muscle fatiguability, Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hyp...	ORPHA:261476
Mitochondrial Complex I Deficiency, Nuclear Type 29	Fatigue, Exercise intolerance, Failure to thrive, Increased muscle fatiguability, Abnormal heart ...	OMIM:618250
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Creatine Phosphokinase, Elevated Serum	Fatigue, Increased muscle fatiguability, Elevated circulating creatine kinase concentration, Abno...	OMIM:123320
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Myotonia, Abnormal muscle fiber morphology, Impaired myocardial contractili...	ORPHA:681
Kennedy Disease	Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Ab...	ORPHA:481
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Elevated circulating creatine kinase concentration	OMIM:160570
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, Myotonia, First degree atrioventricular block, Facial dipleg...	OMIM:160900
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility, Ataxia	OMIM:613909
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, ...	ORPHA:98855
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t...	ORPHA:684
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet...	ORPHA:488650
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Dopamine Beta-Hydroxylase Deficiency	Fatigue, Abnormal EKG, Orthostatic hypotension, Hyperinsulinemia, Elevated circulating creatinine...	ORPHA:230
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia	ORPHA:276183
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, ...	ORPHA:98853
Emery-Dreifuss Muscular Dystrophy	Back pain, Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, ...	ORPHA:261
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Exercise intolerance, Fatigue, Increased muscle fatiguability, Ataxia, Gait ataxia, Myopathy	OMIM:613077
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, ...	ORPHA:98863
Adenosine Monophosphate Deaminase Deficiency	Elevated creatine kinase after exercise, Exercise-induced myalgia, Myalgia, Exercise-induced musc...	ORPHA:45
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Decreased fertility, Calf muscle hypertrophy,...	OMIM:313200
Myopathy Due To Myoadenylate Deaminase Deficiency	Increased muscle fatiguability, Skeletal muscle atrophy, Rhabdomyolysis, Exercise-induced myalgia...	OMIM:615511
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Exercise intolerance, Hand muscle atrophy, Distal lower limb amyotrophy, Handgrip myotonia, Myoto...	ORPHA:324442
Multiple Acyl-Coa Dehydrogenase Deficiency	Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine ki...	ORPHA:26791
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Exercise-induced muscle fatigue, Bact...	ORPHA:1330
Corticosteroid-Binding Globulin Deficiency	Fatigue, Increased muscle fatiguability, Decreased circulating cortisol level, Hypertension, Hypo...	OMIM:611489
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Myalgia, Exercise...	ORPHA:369847
Glycogen Storage Disease Vii	Exercise intolerance, Elevated circulating creatine kinase concentration, Increased variability i...	OMIM:232800
Zebra Body Myopathy	Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine ...	ORPHA:97240
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Abdominal pain, Cardiomegaly, Congestive heart ...	OMIM:235200
Lead Poisoning	Fatigue, Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Decreased female l...	ORPHA:330015
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Myotonia, Elevated circulating creatine kinase concentration, Flexion co...	OMIM:310440
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Dimethylglycine Dehydrogenase Deficiency	Increased muscle fatiguability, Elevated circulating N,N-dimethylglycine concentration, Fish odor...	OMIM:605850
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont...	OMIM:619040
Thyrotoxic Periodic Paralysis	Myotonia, Thyrotoxicosis with diffuse goiter, Impaired myocardial contractility, Exercise-induced...	ORPHA:79102
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Cardiomegaly, Arthralgia, Hypothyroidism, Fatigue, Hypogonadotropic hypogo...	ORPHA:465508
Pure Mitochondrial Myopathy	Exercise intolerance, Scapular winging, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyo...	ORPHA:254854
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Mya...	ORPHA:2364
Hyperkalemic Periodic Paralysis	Hyponatremia, Skeletal muscle atrophy, Myotonia, Elevated circulating creatine kinase concentrati...	ORPHA:682
Dimethylglycine Dehydrogenase Deficiency	Increased muscle fatiguability, Fish odor, Elevated circulating creatine kinase concentration	ORPHA:243343
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Ataxia, Rhabdomyolysis, Exercise-induced myalgia, Myopathy, Exercise-induced muscle fatigue, Hype...	ORPHA:713
Stormorken Syndrome	Increased muscle fatiguability, Epistaxis, Subarachnoid hemorrhage, Elevated circulating creatine...	OMIM:185070
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm...	OMIM:160800
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Hip contracture, Inguinal hernia, Shoulder flexion contracture, Elevated...	OMIM:255800
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella, Situs inversus totalis	OMIM:620197
Brody Disease	Somatic sensory dysfunction, Myotonia, Flexion contracture, Skeletal muscle hypertrophy, Percussi...	OMIM:601003
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fatigue, Myotonia, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Upper...	ORPHA:209335
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Increased muscle fatiguability, Weakness of facial musculature, Facial palsy	OMIM:616323
Myotonia Congenita, Autosomal Recessive	Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, Mya...	OMIM:255700
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Myotonia, Premature ovarian insufficiency	ORPHA:391307
Rippling Muscle Disease 2	Elevated circulating creatine kinase concentration, Muscle mounding, Skeletal muscle hypertrophy,...	OMIM:606072
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Exercise intolerance, Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic...	OMIM:157640
Myotonia, Potassium-Aggravated	Skeletal muscle atrophy, Handgrip myotonia, Myotonia, Elevated circulating creatine kinase concen...	OMIM:608390
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati...	ORPHA:353
Ciliary Dyskinesia, Primary, 12	Exercise intolerance, Situs inversus totalis, Abnormal central microtubular pair morphology of re...	OMIM:612650
Hemochromatosis, Type 3	Fatigue, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated tr...	OMIM:604250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Fatigue, Exercise intolerance, Premature ovarian insufficiency, Diabetes mellitus, Abnormality of...	OMIM:609286
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Abnormality of the diaphragm, Testicular atrophy, Congenital diaphragmatic hernia	OMIM:601163
Myotonia Fluctuans	Fatigue, Handgrip myotonia, Myotonia of the upper limb, Myotonia of the face, Cold-sensitive myot...	ORPHA:99734
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Myotonia, Facial hypotonia, First degree atrioventricular block, Abdominal p...	ORPHA:589821
Rippling Muscle Disease 1	Skeletal muscle hypertrophy, Exercise-induced myalgia, Percussion-induced rapid rolling muscle co...	OMIM:600332
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog...	OMIM:308750
Post-Traumatic Pituitary Deficiency	Fatigue, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, De...	ORPHA:95619
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Imm...	OMIM:614874
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Situs inversus totalis, Abnormal axonemal organizatio...	OMIM:613807
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility	OMIM:602271
Ciliary Dyskinesia, Primary, 26	Situs inversus totalis, Absent outer dynein arms, Infertility, Reduced sperm motility	OMIM:615500
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia, Hyperuricemia	ORPHA:371
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Handgrip myotonia, Prolonged QRS complex, Decreased response to growth h...	ORPHA:273
Hemochromatosis, Type 4	Fatigue, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:606069
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Paramyotonia Congenita	Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Paradoxical myotonia, Myalgia	OMIM:168300
Ciliary Dyskinesia, Primary, 11	Exercise intolerance, Abnormal central microtubular pair morphology of respiratory motile cilia, ...	OMIM:612649
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Myotonia, Ataxia, Flexion contracture, Impaired proprioception, Dys...	OMIM:615491
Acetazolamide-Responsive Myotonia	Myotonia, Skeletal muscle hypertrophy, Chest pain, Myalgia, Hypothyroidism	ORPHA:99736
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Hypokalemia, Myotonia	OMIM:170400
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Inguinal hernia, Myotonia, Shoulder flexion contracture...	ORPHA:800
Ciliary Dyskinesia, Primary, 15	Situs inversus totalis, Abnormal axonemal organization of respiratory motile cilia, Infertility, ...	OMIM:613808
Pituicytoma	Fatigue, Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased respo...	ORPHA:251623
Ciliary Dyskinesia, Primary, 22	Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Infertility, Reduced sp...	OMIM:615444
Myotonia Permanens	Myotonia, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Chest pain, Myalgia	ORPHA:99735
Myotonia With Skeletal Abnormalities And Mental Retardation	Skeletal muscle hypertrophy, Myotonia, Firm muscles	OMIM:255710
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy, Myotonia	OMIM:254950
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Fatig...	ORPHA:91348
Muscular Dystrophy, Barnes Type	Myopathy, Myotonia, Muscular dystrophy	OMIM:158800
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Episodic Ataxia, Type 2	Episodic ataxia, Progressive cerebellar ataxia, Myotonia, Paresthesia	OMIM:108500
Episodic Ataxia Type 1	Choreoathetosis, Calf muscle hypertrophy, Myotonia	ORPHA:37612
Primary Ciliary Dyskinesia	Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ...	ORPHA:244
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Ataxia, Cardiomyopathy, Hypothyroidism, Testicular atrophy	OMIM:222300
Richieri Costa-Da Silva Syndrome	Handgrip myotonia, Decreased muscle mass, Myotonia of the upper limb, Diastasis recti, Skeletal m...	ORPHA:3101
Ciliary Dyskinesia With Defective Radial Spokes	Absent respiratory ciliary axoneme radial spokes, Immotile sperm	OMIM:242670
Lipodystrophy, Congenital Generalized, Type 4	Exercise intolerance, Prolonged QT interval, Tachycardia, Atrial fibrillation, Lipodystrophy, Ele...	OMIM:613327
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Reduced sperm motility	OMIM:615434
Hyperkalemic Periodic Paralysis	Myotonia, Hyperkalemia	OMIM:170500
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Fatigue, Increased circulating ferritin concentration, Azoospermia, Increased serum iron, Hypogon...	ORPHA:300298
Aarskog-Scott Syndrome	Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto...	OMIM:305400
Ciliary Dyskinesia, Primary, 5	Situs inversus totalis, Reduced sperm motility	OMIM:608647
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Reduc...	OMIM:619608
Idiopathic Camptocormia	Myositis, Myotonia, Elevated circulating creatine kinase concentration, Fatty replacement of skel...	ORPHA:1320
Normokalemic Periodic Paralysis	Percussion myotonia	OMIM:170600
Thomsen And Becker Disease	Myotonia	ORPHA:614
Coccidioidomycosis	Fatigue, Abnormal sperm morphology, Pericarditis, Abnormality of the endocrine system, Vasculitis...	ORPHA:228123
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn...	ORPHA:1359
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Inguinal hernia, Elbow contracture, Percussion myotonia, Umbilical hernia, Nemaline bodies	OMIM:620275
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Fatigue, Hyper...	ORPHA:91347
Generalized Glucocorticoid Resistance Syndrome	Fatigue, Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased cir...	ORPHA:786
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl...	ORPHA:169189
Stuve-Wiedemann Syndrome 1	Myotonia, Impaired pain sensation, Elbow flexion contracture, Knee flexion contracture, Pulmonary...	OMIM:601559
Renal Nutcracker Syndrome	Fatigue, Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Abdominal pain, Flank p...	ORPHA:71273
Lesch-Nyhan Syndrome	Choreoathetosis, Testicular atrophy, Hyperuricemia	OMIM:300322
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Elevated circulating creatinine concentration, Mitral valve prolapse, Hypertens...	ORPHA:730
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Facial hypotonia, Handgrip myotonia, Ataxia	ORPHA:438216
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Camptodactyl...	ORPHA:3063
Non-Acquired Panhypopituitarism	Fatigue, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogona...	ORPHA:90695
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Elevated circulating creatine kinase concentration	OMIM:253800
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Elevated circulating creati...	OMIM:137920
Myopathy, Centronuclear, 1	Mildly elevated creatine kinase	OMIM:160150
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Dystonia, Laryngeal dy...	ORPHA:845
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Hypoasparaginemia	OMIM:615574
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Decreased serum iron, Dystonia	ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

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 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.

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
Mtmr14^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Mtmr14^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us