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

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.

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 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
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
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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