Gene Summary

Name:
lysosomal-associated protein transmembrane 4A
Synonyms:
Mtrp

IMPC Data Collections

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 fasting circulating glucose level Laptm4atm1b(EUCOMM)Hmgu HOM Early adult 4.81×10-11
decreased total retina thickness Laptm4atm1b(EUCOMM)Hmgu HOM Early adult 4.40×10-06
short tibia Laptm4atm1b(EUCOMM)Hmgu HOM Early adult 2.53×10-07
increased prepulse inhibition Laptm4atm1b(EUCOMM)Hmgu HOM   Early adult 8.84×10-05
prolonged ST segment Laptm4atm1b(EUCOMM)Hmgu HOM Early adult 1.37×10-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Echo

M-Mode Images

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Laptm4a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Laptm4a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Increased laxity of ankles, Shor... ORPHA:93323
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Ischemic stroke, Myocardial... ORPHA:90065
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Bundle branch block, Increased pulmonary vascular resistance, Atrial fibrill... ORPHA:99103
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... ORPHA:2768
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... OMIM:201170
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Nathalie Syndrome
Abnormal EKG OMIM:255990
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... OMIM:119100
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Stuve-Wiedemann Syndrome 1
Talipes, Micrognathia, Short tibia, Bowing of the long bones, Metaphyseal rarefaction, Absent pat... OMIM:601559
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Congenital Disorder Of Glycosylation, Type Ig
Short ribs, Sandal gap, Rhizomelia, Retinal detachment, Hypoplasia of the radius, Short tibia, Sh... OMIM:607143
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Syndactyly, Sudden cardiac death, Syncope, Prolonged... OMIM:618447
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly, Retinal coloboma OMIM:258865
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellitus, Hypergly... OMIM:520000
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Scorpion Envenomation
Glycosuria, Increased circulating troponin I concentration, Premature ventricular contraction, Ar... ORPHA:466677
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Bardet-Biedl Syndrome 9
Brachydactyly, Retinal degeneration, Postaxial foot polydactyly, Polydactyly, Rod-cone dystrophy,... OMIM:615986
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Microcephaly-Micromelia Syndrome
Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradial synostosis, Fore... OMIM:251230
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... OMIM:608940
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Diabetic ketoacidosis, Ventricular fibrillation, Insulin ... ORPHA:358
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Atelosteogenesis Type Iii
Vertebral hypoplasia, Absent humerus, Absent radius, Epiphyseal stippling of the humerus, Microgn... ORPHA:56305
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Abnormal atriovent... ORPHA:85451
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Coxa valga, Abnormality of long bone morph... ORPHA:356961
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Abnormality of fibula mo... ORPHA:1988
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... OMIM:250215
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, ... OMIM:227270
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Phocomelia, Arrhythmia, Fibular hypoplasia, Absent radius, Apla... OMIM:171480
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Tibial Hemimelia
Absent tibia OMIM:275220
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... OMIM:609945
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Friedreich Ataxia
Areflexia of lower limbs, Congestive heart failure, Abnormal echocardiogram, Abnormal EKG, Hypert... OMIM:229300
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Tibial bowing,... OMIM:600785
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Short ribs, Absent ti... OMIM:613091
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Metaphyseal cuppin... OMIM:602111
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Patellar hypoplasia, Absent tibia, Talipes equinovarus, Mirror ima... OMIM:119800
Atrial Septal Defect, Ostium Primum Type
Prolonged PR interval, Atrial flutter, Systolic heart murmur, Congestive heart failure, Clubbing ... ORPHA:99106
Myofibrillar Myopathy 10
Increased circulating troponin I concentration, Sandal gap, Ankle flexion contracture, Knee flexi... OMIM:619040
Andersen Cardiodysrhythmic Periodic Paralysis
Brachydactyly, Toe syndactyly, Slender long bone, Short palm, Short metacarpal, Clinodactyly of t... OMIM:170390
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Transient neonatal diabetes mellitus, Maternal diabetes, Maturity-onset di... ORPHA:99886
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyndactyly of ... OMIM:263520
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Tibial bowing, Micrognathia, Lower limb undergrowth, Short lower limbs OMIM:236640
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Pes cavus, Abnormal EKG, Decreased/absent ankle reflexes ORPHA:1177
Shox-Related Short Stature
Ulnar radial head dislocation, Tibial bowing, Micrognathia, Lower limb undergrowth, Forearm under... ORPHA:314795
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Cardiomyopathy, Calf ... OMIM:310200
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad first metatarsal, Preaxial foot polydactyly, Y-shaped metacarpals, Cone-... ORPHA:2751
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Omodysplasia 1
Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Limited knee flexion, Micrognathia, L... OMIM:258315
Naxos Disease
Dilated cardiomyopathy, Palmoplantar keratoderma, Paroxysmal ventricular tachycardia, Premature v... OMIM:601214
Ophthalmomandibulomelic Dysplasia
Coxa valga, Fibular hypoplasia, Ulnar deviated club hands, Lateral humeral condyle aplasia, Radia... OMIM:164900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Hypoplastic iliac ... ORPHA:96334
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly of the 5th fin... ORPHA:3320
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Hypotension, Prolonged QT interval, ... ORPHA:466650
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Femoral bowing OMIM:166740
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestive heart failur... ORPHA:75566
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Prolonged QT interval, No... OMIM:610198
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hypoplastic pubic bone, Short long bone, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Mi... OMIM:617925
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Microphthalmia With Limb Anomalies
Toe syndactyly, Hand oligodactyly, Postaxial foot polydactyly, Fibular hypoplasia, 4-5 metacarpal... OMIM:206920
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic il... OMIM:223800
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Congenital Sialidosis Type 2
Cherry red spot of the macula, Hypoplasia of the fovea, Abnormal EKG, Polydactyly, Yellow/white l... ORPHA:93400
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Abnormal EKG, Orthos... ORPHA:230
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly OMIM:165590
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hypertension, Type II ... OMIM:604367
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Brachydactyly, Short humerus, Club... OMIM:108720
Brachymesomelia-Renal Syndrome
Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulnar bowing, Mesomelic arm shortening OMIM:113470
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Hypoglycemia, Arrhythmia, Abnormal EKG, Prolonged QT interval, Optic atrophy ORPHA:480864
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Broad hallux,... OMIM:304120
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Radial bowing, ... OMIM:601027
Mody
Glycosuria, Retinopathy, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Transient ne... ORPHA:552
Congenitally Uncorrected Transposition Of The Great Arteries
Maternal diabetes, Congestive heart failure, Abnormality of blood circulation, Heart murmur, Left... ORPHA:860
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Fibrochondrogenesis 1
Hypoplastic ischia, Short palm, Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly ... OMIM:228520
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Hypoplasia o... ORPHA:958
Cirrhotic Cardiomyopathy
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... ORPHA:57777
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Rett Syndrome
Abnormal T-wave, Short foot, Prolonged QTc interval OMIM:312750
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Right bundle branch block, Limited knee flexion/extensio... ORPHA:268
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Micromelia, Ulnar bowing,... OMIM:211350
Friedreich Ataxia And Congenital Glaucoma
Diabetic ketoacidosis, Hammertoe, Congestive heart failure, Abnormal echocardiogram, Abnormal EKG... OMIM:229310
Al Amyloidosis
Increased circulating troponin I concentration, Gastrointestinal hemorrhage, Arrhythmia, Jaw clau... ORPHA:85443
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoglycemic seizures, Neonatal hypoglycemia, Hypertrophic cardiomyopathy... ORPHA:71212
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Friedreich Ataxia 2
Diabetic ketoacidosis, Hammertoe, Congestive heart failure, Abnormal echocardiogram, Abnormal EKG... OMIM:601992
Occipital Horn Syndrome
Brachydactyly, Coxa valga, Short palm, Absent tibia, Pes planus, Aplastic clavicle, Abnormality o... ORPHA:198
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus OMIM:618857
Phocomelia, Schinzel Type
Bowing of the long bones, Talipes, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hy... ORPHA:2879
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Diabetic ketoacidosis, Hammertoe, Congestive heart failure, Abnormal echocardiogram, Abnormal EKG... OMIM:302900
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis ORPHA:231625
Dextrocardia
T-wave inversion, Congenital hip dislocation, Abnormal EKG, Abnormal foot morphology ORPHA:1666
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Missing ribs, Foot polydactyly, Hypoplasia of the ulna, Hypop... OMIM:200980
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Fibular hypoplasia, 11 pairs of ribs, Tibial... ORPHA:140
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Overlapping fingers, Optic nerve hypoplasia, Diabetes mellitus, Hyperglycemia OMIM:609069
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Incre... ORPHA:3144
Hydrolethalus Syndrome 1
Upper limb undergrowth, Duplication of phalanx of hallux, Micrognathia, Proximal tibial hypoplasi... OMIM:236680
Cardiac Diverticulum
Aplasia/Hypoplasia of the sternum, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia,... ORPHA:1686
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly ORPHA:1827
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Fibular hypoplasia, Pes planus, 11 pairs of ribs,... OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone aplasia, Aplasia/... OMIM:276820
Absence Of The Pulmonary Artery
Atrial flutter, Reduced ejection fraction, Systolic heart murmur, Congestive heart failure, Abnor... ORPHA:980
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Abnormal left ventricular function, Congestive heart failure, Pulmonary embolism... ORPHA:70591
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Broad distal phalanges of all finger... OMIM:218330
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Ventricular arrhyth... ORPHA:90068
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Contractures involving the joints of the feet, Tapered finger, Micrognathia, Sle... ORPHA:444072
Camptodactyly Syndrome, Guadalajara, Type I
Brachydactyly, Toe syndactyly, Short palm, Short femoral neck, Fibular hypoplasia, Twelfth rib hy... OMIM:211910
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Skewfoot, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Charge Syndrome
Bilateral talipes equinovarus, Hypoplasia of the ulna, Absent radius, Absent tibia, Short thumb, ... OMIM:214800
Orofaciodigital Syndrome Type 4
Genu varum, Finger syndactyly, Aplasia/Hypoplasia of the mandible, Micrognathia, Micromelia, Apla... ORPHA:2753
African Trypanosomiasis
Optic neuritis, Second degree atrioventricular block, Arrhythmia, Congestive heart failure, Abnor... ORPHA:3385
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Prolonged PR interval, Insulin res... ORPHA:273
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Brachydactyly, Hypoplasia of proximal radius, Fibular hypoplasia, Congestive heart failure, Micro... ORPHA:444077
Woodhouse-Sakati Syndrome
Abnormal T-wave, Diabetes mellitus OMIM:241080
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:3464

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 Laptm4a

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 Laptm4a.

No publications found that use IMPC mice or data for Laptm4a.

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MGI Allele Allele Type Produced
Laptm4atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Laptm4atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Laptm4atm79747(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Laptm4atm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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