Gene Summary

Name:
myotubularin related protein 14
Synonyms:
1110061O04Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 amylase level Mtmr14tm1a(KOMP)Wtsi HOM Early adult 8.02×10-05
increased lactate dehydrogenase level Mtmr14tm1a(KOMP)Wtsi HOM Early adult 3.37×10-05
increased circulating alanine transaminase level Mtmr14tm1a(KOMP)Wtsi HOM Early adult 6.76×10-09
increased startle reflex Mtmr14tm1a(KOMP)Wtsi HOM Early adult 6.77×10-06
increased circulating aspartate transaminase level Mtmr14tm1a(KOMP)Wtsi HOM Early adult 5.47×10-05

Download data as:  TSV  XLS

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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 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
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
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
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration OMIM:612932
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy, Myotonia, Elevated circulating creatine kinase concentration, Oligos... OMIM:602668
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Abnormal tendon morphology, Urinary incontinence, Decreas... ORPHA:320391
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Exercise-ind... ORPHA:261476
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating cre... OMIM:123320
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration OMIM:160570
Kennedy Disease
Skeletal muscle atrophy, Erectile dysfunction, Abnormal circulating lipid concentration, Testicul... ORPHA:481
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, First degree atrioventricular block, Testicular atrophy, Myotonia... OMIM:160900
Dopamine Beta-Hydroxylase Deficiency
Chest pain, Orthostatic hypotension, Elevated circulating creatinine concentration, Hyperinsuline... ORPHA:230
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Ataxia, Testicular atrophy OMIM:613909
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Myotonia, Absent muscle ... ORPHA:98855
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Spinocerebellar Ataxia Type 32
Azoospermia, Progressive cerebellar ataxia, Male infertility, Testicular atrophy ORPHA:276183
Paramyotonia Congenita Of Von Eulenburg
Myotonia of the upper limb, Cold-sensitive myotonia, Abnormal blood potassium concentration, Para... ORPHA:684
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Myotonia, Absent muscle ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Myotonia, Absent muscle ... ORPHA:261
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Myotonia, Absent muscle ... ORPHA:98863
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Exercise-induced myalgia, Myopathy, Increased muscle fat... OMIM:615511
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Multiple Acyl-Coa Dehydrogenase Deficiency
Rhabdomyolysis, Arrhythmia, Congestive heart failure, Skeletal muscle atrophy, Elevated circulati... ORPHA:26791
Adenosine Monophosphate Deaminase Deficiency
Exercise-induced myalgia, Exercise-induced muscle fatigue, Myalgia, Limb muscle weakness ORPHA:45
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Hypercholesterolemia, Intrinsic hand muscle atrophy, Incr... ORPHA:488650
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Limb muscle weakness, Elevated circulating creatine kinase concentration, Te... OMIM:313200
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Cardiomegaly, Amenor... OMIM:235200
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Exercise-induced muscle fatigue, Mildly elevated creatine kinase, Adrenocor... ORPHA:681
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Achilles tendon contracture, Weakness of the intrinsic hand muscles, Hand muscle atrophy, Foot do... ORPHA:324442
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Limb-girdle muscular dystrophy, Exercise-induced muscle fatigue, My... ORPHA:369847
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, F... ORPHA:97240
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypothyroidism, Erectile dysfunction, Abnormality of iron homeostasis, Diabetes mell... ORPHA:465508
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, Increased QRS ... OMIM:619040
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Fish odor, Elevated circulating N,N-dimethylg... OMIM:605850
Stormorken Syndrome
Elevated circulating creatine kinase concentration, Myopathy, Myalgia, Increased muscle fatiguabi... OMIM:185070
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Rhabdomyolysis, Exercise-induced muscle fatigue, Increased serum pyruvate, Elevated circulating c... ORPHA:2364
Corticosteroid-Binding Globulin Deficiency
Fatigue, Increased muscle fatiguability, Hypotension, Hypertension OMIM:611489
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Fish odor, Increased muscle fatiguability ORPHA:243343
Pure Mitochondrial Myopathy
Rhabdomyolysis, Exercise-induced muscle fatigue, Proximal amyotrophy, Myalgia, Quadriceps muscle ... ORPHA:254854
Rippling Muscle Disease 2
Muscle mounding, Abnormal skeletal muscle morphology, Exercise-induced myalgia, Percussion-induce... OMIM:606072
Lead Poisoning
Abnormal sperm morphology, Infertility, Somatic sensory dysfunction, Decreased female libido, Sma... ORPHA:330015
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Exercise-induced muscle fatigue, Ataxia, Exercise-induced myalgia, Myopathy, Hype... ORPHA:713
Hyperkalemic Periodic Paralysis
Chest pain, Hypokalemia, Flexion contracture, Hyponatremia, Arrhythmia, Congestive heart failure,... ORPHA:682
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Gait ataxia, Myopathy, Increased muscle fatiguability OMIM:613077
Myotonia Congenita, Autosomal Dominant
Myotonia, Percussion myotonia, Myalgia, Skeletal muscle hypertrophy, EMG: myotonic runs, Handgrip... OMIM:160800
Brody Disease
Somatic sensory dysfunction, Flexion contracture, Myotonia, Percussion myotonia, Myalgia, Skeleta... OMIM:601003
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Saccharopinuria
Hyperlysinemia, Abnormality of circulating enzyme level, Elevated plasma citrulline, Hypercystine... ORPHA:3124
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, Percussion myotonia, My... ORPHA:34516
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Thyrotoxicosis with diffuse goiter, Shortened PR interval, ... ORPHA:79102
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Myotonia Congenita, Autosomal Recessive
Muscle hypertrophy of the lower extremities, Myotonia, Percussion myotonia, Myalgia, Skeletal mus... OMIM:255700
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Foot dorsiflexor weakness, Skeletal muscle atrophy, Myotonia, Elevated circulating creatine kinas... OMIM:137200
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Amenorrhea, Elevated... OMIM:604250
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Skeletal muscle atrophy, Proximal muscle weakness in lower limbs, Myotonia, ... OMIM:310440
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Primary amenorrhea, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red mu... OMIM:157640
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Myotonia ORPHA:391307
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility, Situs inversus totalis OMIM:614874
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Achilles tendon contracture, Increased endomysial connecti... ORPHA:353
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Skeletal muscle atrophy, Myotonia, Inguinal hernia, Shoulder flexi... OMIM:255800
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Situs inversus totalis, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Situs inversus totalis, Male infertil... OMIM:613807
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Myotonia of the upper limb, Abnormality of masticatory mus... ORPHA:273
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia ORPHA:371
Rippling Muscle Disease 1
Exercise-induced myalgia, Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle co... OMIM:600332
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Paramyotonia Congenita Of Von Eulenburg
Paradoxical myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myalgia, Handgrip myotonia OMIM:168300
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia, Testicular atrophy OMIM:601163
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm, Situs in... OMIM:613808
Ciliary Dyskinesia, Primary, 22
Infertility, Dextrocardia, Situs inversus totalis, Absent inner and outer dynein arms, Reduced sp... OMIM:615444
Acetazolamide-Responsive Myotonia
Chest pain, Hypothyroidism, Myotonia, Skeletal muscle hypertrophy, Myalgia ORPHA:99736
Myotonia Fluctuans
Myotonia of the upper limb, Fatigue, Spasticity of facial muscles, Myotonia of the face, Myalgia,... ORPHA:99734
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Myotonia, Potassium-Aggravated
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Myalgia, Myotonia OMIM:608390
Spastic Paraplegia 79, Autosomal Recessive
Dysmetria, Flexion contracture, Ataxia, Myotonia OMIM:615491
Myotonia Permanens
Chest pain, Generalized muscle hypertrophy, Myotonia, Skeletal muscle hypertrophy, Myalgia ORPHA:99735
Primary Ciliary Dyskinesia
Double outlet right ventricle, Situs inversus totalis, Abnormal atrial arrangement, Abnormal sper... ORPHA:244
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Skeletal muscle hypertrophy, Myotonia OMIM:255710
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Myotonia OMIM:254950
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy, Myotonia OMIM:158800
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Erectile dysfunction, Panhypopituitarism, Central adr... ORPHA:91349
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism, Delayed puberty ORPHA:90646
Richieri Costa-Da Silva Syndrome
Myotonia of the upper limb, Skeletal muscle hypertrophy, Asymmetric limb muscle stiffness, Distal... ORPHA:3101
Episodic Ataxia Type 1
Choreoathetosis, Calf muscle hypertrophy, Myotonia ORPHA:37612
Schwartz-Jampel Syndrome
Decreased body weight, Arrhythmia, Skeletal muscle atrophy, Testicular torsion, Myotonia, Pulmona... ORPHA:800
Episodic Ataxia, Type 2
Progressive cerebellar ataxia, Episodic ataxia, Myotonia, Paresthesia OMIM:108500
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Increased circulating ferritin concentration, Abnormality ... ORPHA:300298
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Reduced sperm motility OMIM:608647
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Primum atrial septal defect, Partial atrioventricular canal defect, Situs inversus totalis, Reduc... OMIM:619608
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Ataxia, Testicular atrophy, Cardiomyopathy, Diabetes mellitus OMIM:222300
Coccidioidomycosis
Abnormality of the female genitalia, Vasospasm, Abnormal sperm morphology, Chest pain, Atypical s... ORPHA:228123
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Ovarian carcinom... ORPHA:1359
Stuve-Wiedemann Syndrome 1
Contracture of the proximal interphalangeal joint of the 5th finger, Impaired pain sensation, Kne... OMIM:601559
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Flexion contracture, Muscle mounding, Hyperinsulinemia, Muscular dystrophy, Elevat... OMIM:613327
Generalized Glucocorticoid Resistance Syndrome
Increased circulating ACTH level, Infertility, Hypokalemia, Adrenal hyperplasia, Increased urinar... ORPHA:786
Hyperkalemic Periodic Paralysis
Hyperkalemia, Myotonia OMIM:170500
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Hypokalemia, Euthyroid hyperthyroxinemia, Erectile dysfuncti... ORPHA:91347
Normokalemic Periodic Paralysis
Myotonia OMIM:170600
Idiopathic Camptocormia
Myositis, Abnormal muscle fiber dysferlin, EMG: myopathic abnormalities, Myotonia, Elevated circu... ORPHA:1320
Thomsen And Becker Disease
Myotonia ORPHA:614
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal T-wave, Hypothyroidism, Hyperlipidemia, Choreoathetosis, Hyper... ORPHA:3464
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Pancreatic cysts, Reduced sperm motility, Pain, Hy... ORPHA:730
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Ataxia-Telangiectasia
Elevated alpha-fetoprotein, Female hypogonadism, Choreoathetosis, Abnormal spermatogenesis, Conju... OMIM:208900
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Lesch-Nyhan Syndrome
Hyperuricosuria, Hyperuricemia, Choreoathetosis, Testicular atrophy OMIM:300322
Diphallia
Ectopic scrotum, Bifid penis, Cryptorchidism, Abnormal spermatogenesis, Atrial septal defect, Ing... ORPHA:227
Autosomal Dominant Centronuclear Myopathy
Large for gestational age, Proximal muscle weakness in upper limbs, Cryptorchidism, Proximal musc... ORPHA:169189
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Elevated circulating creatinine concentration, Pancreatic hypoplasia, Hyperurice... OMIM:137920
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Facial hypotonia, Handgrip myotonia, Ataxia ORPHA:438216
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Decreased muscle mass, Abnormality of the Leydig cells, Testicular atrophy, Campt... ORPHA:3063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Tay-Sachs Disease
Dystonia, Increased serum beta-hexosaminidase, Laryngeal dystonia, Exaggerated startle response, ... ORPHA:845
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Sandhoff Disease
Exaggerated startle response OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Dystonia, Exaggerated startle response 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.

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MGI Allele Allele Type Produced
Mtmr14tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mtmr14tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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