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Gene: Pdlim4 MGI:1353470

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Gene Summary

Name:
PDZ and LIM domain 4
Synonyms:
Ril

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased thigmotaxis Pdlim4em2(IMPC)Ics HOM Early adult 4.47×10-05
abnormal pancreas morphology Pdlim4em2(IMPC)Ics HOM Early adult 0.00
decreased circulating glucose level Pdlim4em2(IMPC)Ics HOM   Early adult 9.00×10-05
improved glucose tolerance Pdlim4em2(IMPC)Ics HOM Early adult 6.01×10-06
short tibia Pdlim4em2(IMPC)Ics HOM Early adult 5.63×10-05
hypoactivity Pdlim4em2(IMPC)Ics HOM   Early adult 7.44×10-06
increased anxiety-related response Pdlim4em2(IMPC)Ics HOM Early adult 2.90×10-05
abnormal behavior Pdlim4em2(IMPC)Ics HOM Early adult 4.47×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Gross Pathology and Tissue Collection

Images

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Pdlim4 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 Pdlim4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteoporosis
OMIM:166710

The table below shows human diseases predicted to be associated to Pdlim4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Depression, Impaired glucose tolerance, Anxiety, Diabetes mellitus OMIM:614296
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Hypoglycemia, Leucine-Induced
Ataxia, Irritability, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Cryptorchidism, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hy... OMIM:612447
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Tibial Hemimelia
Cryptorchidism, Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus... ORPHA:93322
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety, Ataxia OMIM:618970
Wolfram-Like Syndrome
Glucose intolerance, Depression, Progressive cerebellar ataxia, Anxiety, Central diabetes insipid... ORPHA:411590
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Hypoglycemia OMIM:616113
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Decreased response to growth hormone stimuation test OMIM:262400
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Progressive cerebellar ataxia, Dystonia, Hypoglycemia ORPHA:67046
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Short long... OMIM:601559
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Sho... OMIM:607143
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Slc35A2-Cdg
Inability to walk, Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation,... ORPHA:356961
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Micrognathia ORPHA:2849
Aceruloplasminemia
Dystonia, Gait ataxia, Akinesia, Apathy, Limb ataxia, Blepharospasm, Ataxia, Craniofacial dystoni... ORPHA:48818
Femoral-Facial Syndrome
Hip dysplasia, Cryptorchidism, Maternal diabetes, Short femur, Radioulnar synostosis, Preaxial fo... ORPHA:1988
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia OMIM:306000
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... ORPHA:79106
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Macroorchidism, Irritability, ... ORPHA:3077
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Micrognathia, Congenital hepatic fibrosis, Hypoglycemia ORPHA:446
Laurin-Sandrow Syndrome
Cryptorchidism, Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe... ORPHA:2378
African Iron Overload
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Hepatic steatosis, Hepatocellular carcinoma... ORPHA:139507
Microphthalmia With Limb Anomalies
Cryptorchidism, Tarsal synostosis, Broad thumb, Sandal gap, Abnormality of the metacarpal bones, ... ORPHA:1106
Glucocorticoid Resistance, Generalized
Anxiety, Hypoglycemia OMIM:615962
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Lethargy, Ataxia, Hypoglycemia, Hepatomegaly OMIM:246900
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Irritability ORPHA:2089
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Pancreatic Agenesis 1
Pancreatic hypoplasia, Diabetes mellitus, Neonatal insulin-dependent diabetes mellitus, Exocrine ... OMIM:260370
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Congenital hip dislocation, Hyperechogenic pancreas, Ulnar dev... ORPHA:456312
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Falls, Anxiety, Diabetes mellitus ORPHA:3198
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Split ... OMIM:609945
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatocellular carcinoma, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Irritability, ... ORPHA:369
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Wadd... OMIM:602111
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Classic Galactosemia
Cryptorchidism, Dystonia, Lethargy, Premature ovarian insufficiency, Depression, Gait disturbance... ORPHA:79239
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis,... OMIM:167800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Pancreat... OMIM:208500
Omodysplasia 1
Cryptorchidism, Hypoplastic distal humeri, Limited knee extension, Rhizomelia, Short humerus, Lim... OMIM:258315
Mpi-Cdg
Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Mitchell-Riley Syndrome
Absent gallbladder, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Hyperg... OMIM:615710
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Bila... OMIM:119800
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Short thumb, Micro... OMIM:227270
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease, Bowing of the long bones OMIM:211890
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic pubic bone, Short ribs, Short tibia, Sho... OMIM:617925
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, C... ORPHA:96334
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Hemochromatosis, Neonatal
Cirrhosis, Hepatocellular necrosis, Hypoglycemia, Cholestasis, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Lethargy, Irritability, Hypoglycemia OMIM:229700
Pearson Marrow-Pancreas Syndrome
Diabetes mellitus, Type I diabetes mellitus, Pancreatic fibrosis OMIM:557000
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Abnormal panc... ORPHA:1190
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Ataxia, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Proximal placemen... OMIM:616263
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Clinodactyly of the 5th finger, ... ORPHA:3320
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Pancreatic fibrosis, Short ribs, Short long bone, Sy... OMIM:615503
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Inability to walk, Rocker bottom foot, 4-5 toe syndactyly, Overlapping toe, Microretrognathia, At... ORPHA:488642
Feingold Syndrome
Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Abnormality of the spleen, Clinodactyl... ORPHA:1305
Tibial Hemimelia
Absent tibia OMIM:275220
Atelosteogenesis, Type I
Radial bowing, Cryptorchidism, Club-shaped proximal femur, Short femur, Short metatarsal, Fibular... OMIM:108720
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Hypoglycemia, Hypoinsulinemia, Anterior pituitary hypoplasia, Pes cavus, Type I... ORPHA:453533
Nephronophthisis 13
Polydactyly, Hepatic cysts, Pancreatic cysts OMIM:614377
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Campomelia, Cumming Type
Pancreatic cysts, Bowing of the long bones, Hepatomegaly, Abnormality of the pancreas, Clubbing o... ORPHA:1318
Maple Syrup Urine Disease
Pancreatitis, Lethargy, Ataxia, Hypoglycemia OMIM:248600
Distal Monosomy 12Q
Self-mutilation, Maturity-onset diabetes of the young, Overlapping toe, Micrognathia, Short middl... ORPHA:96149
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Neonatal hypoglycemia, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Irritability OMIM:212138
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad... OMIM:304120
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Spondyloepimetaphyseal Dysplasia, Krakow Type
Metaphyseal irregularity, Rhizomelia, Irregular epiphyses, 2-3 toe syndactyly, Mesomelia, Knee fl... OMIM:618162
Occipital Horn Syndrome
Hip dysplasia, Genu valgum, Large iliac wing, Absent tibia, Humerus varus, Pes planus, Down-slopi... ORPHA:198
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Infantile Liver Failure Syndrome 2
Jaundice, Lethargy, Hypoglycemia OMIM:616483
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Lethargy, Hypoglycemia OMIM:201450
Seckel Syndrome 1
Cryptorchidism, Dislocated radial head, Hypoplasia of proximal fibula, Talipes, Pes planus, Abnor... OMIM:210600
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Fibular aplasia OMIM:218550
Pancreatic And Cerebellar Agenesis
Overlapping fingers, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Diabetes mellitus OMIM:609069
Hereditary Chronic Pancreatitis
Jaundice, Pancreatic calcification, Diabetes mellitus, Recurrent pancreatitis ORPHA:676
Bohring-Opitz Syndrome
Dislocated radial head, Overlapping toe, Mesomelic/rhizomelic limb shortening, Hyperechogenic pan... OMIM:605039
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pancreatic fibrosis, ... OMIM:208540
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowing OMIM:113470
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct... OMIM:601346
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broad long bones... OMIM:228520
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Metaphyseal irregularity, Hyperechogenic pancreas, Hepatomegal... OMIM:617941
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Cholestasis, Postaxial foot polydactyly, Portal hypertension... OMIM:267010
Phocomelia, Schinzel Type
Radial bowing, Cryptorchidism, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular... ORPHA:2879
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Orofaciodigital Syndrome Type 1
Dystonia, Postaxial hand polydactyly, Tarsal synostosis, Exocrine pancreatic insufficiency, Preax... ORPHA:2750
Acromelic Frontonasal Dysplasia
Cryptorchidism, Preaxial foot polydactyly, Hypopituitarism, Anterior pituitary hypoplasia, Aplasi... ORPHA:1827
Jacobsen Syndrome
Cryptorchidism, Bipolar affective disorder, Hand polydactyly, Toe syndactyly, Annular pancreas, T... ORPHA:2308
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Absent nipple, Hand polydactyly, Toe syndactyly, Sp... OMIM:200980
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, ... OMIM:236680
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts OMIM:616307
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Postaxial foot polydac... OMIM:601027
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Hypoplastic scapulae, Shortening of all phal... OMIM:114290
Alveolar Echinococcosis
Abnormality of mesentery morphology, Hepatic cysts, Pancreatic cysts, Biliary cirrhosis, Abnormal... ORPHA:284
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly, Portal hyperten... OMIM:263200
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Abnormality of femur morphology, Abnormality of the ischium, Pancrea... ORPHA:464329
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Annular pancreas, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Schneckenbecken Dysplasia
Cryptorchidism, Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-sh... ORPHA:3144
Trisomy 8P
Cryptorchidism, Short fifth metatarsal, Clinodactyly of hallux, Short fourth metatarsal, Overlapp... ORPHA:264450
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Aplasia of the 1st metacarpal, Preaxial hand polydactyly, Annular pancreas, Parti... OMIM:227646
Campomelic Dysplasia
Hypoplastic inferior ilia, Bowing of the long bones, Tibial bowing, Short long bone, Fibular hypo... ORPHA:140
Feingold Syndrome 1
4-5 toe syndactyly, Accessory spleen, Polysplenia, 2-3 toe syndactyly, Aplasia/Hypoplasia of the ... OMIM:164280
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Hypoplasia of the radius, Maternal diabetes, Fibular aplasia, Short sternum, Apla... OMIM:266910
Orofaciodigital Syndrome I
Ovarian cyst, Polydactyly, Hepatic cysts, Pancreatic cysts, Microretrognathia, Radial deviation o... OMIM:311200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplastic pubic bones, Split hand, Phocomelia, Femoral bowing, Hypoplasia of the r... OMIM:276820
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Mic... OMIM:200995
Meckel Syndrome
Cryptorchidism, Postaxial hand polydactyly, Accessory spleen, Preaxial hand polydactyly, Talipes,... ORPHA:564
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Congenital hip dislocation, Short palm, Small hand, Short thumb, Short foot, Tali... OMIM:268400
Bohring-Opitz Syndrome
Inability to walk, Cholelithiasis, Metacarpophalangeal joint contracture, Micrognathia, Annular p... ORPHA:97297
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatic steatosis, Hypoplastic spleen, Macronodular cirrhosis,... ORPHA:699
Von Hippel-Lindau Disease
Pancreatic cysts, Adrenal pheochromocytoma, Distal lower limb muscle weakness, Anxiety, Neoplasm ... ORPHA:892
Cranioectodermal Dysplasia 1
Short toe, Triphalangeal hallux, Broad toe, Hepatic cysts, Rhizomelia, Malformation of the hepati... OMIM:218330
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Jaundice, Abnormality of exocrine pancreas physiology, Diabetes mellitus, Apla... ORPHA:93111
1P36 Deletion Syndrome
Hip dysplasia, Cryptorchidism, Lower limb asymmetry, Camptodactyly of finger, Hepatic steatosis, ... ORPHA:1606
Autosomal Recessive Polycystic Kidney Disease
Micrognathia, Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Hepatic fi... ORPHA:731
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargement of paroti... ORPHA:449432
Beckwith-Wiedemann Syndrome
Cryptorchidism, Neonatal hypoglycemia, Exocrine pancreatic insufficiency, Pseudohypoparathyroidis... ORPHA:116
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hip dysplasia, Cryptorchidism, Annular pancreas, Clinodactyly of the 5th finger, Syndactyly, Micr... OMIM:616975
Jacobsen Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Missing ribs, Micrognathia, Brachydactyly, Annula... OMIM:147791
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Lethargy, Hypoglycemia OMIM:228100
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Absent testis, Preaxial hand polydactyly, Fi... ORPHA:2753
Von Hippel-Lindau Syndrome
Pheochromocytoma, Pancreatic cysts, Neoplasm of the pancreas, Abnormality of the liver OMIM:193300
17Q12 Microdeletion Syndrome
Cryptorchidism, Diabetes mellitus, Pancreatic aplasia ORPHA:261265
Schinzel-Giedion Syndrome
Overlapping fingers, Radioulnar synostosis, Overlapping toe, Annular pancreas, Camptodactyly, Sho... ORPHA:798
Fryns Syndrome
Cryptorchidism, Rocker bottom foot, Microretrognathia, Polysplenia, Camptodactyly, Short distal p... OMIM:229850
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hepatic cysts, Polycystic liver disease, Pancreatic cysts ORPHA:730
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the phala... ORPHA:556955
Ulbright-Hodes Syndrome
Cryptorchidism, Hypoplasia of the radius, Maternal diabetes, Fibular aplasia, Humeroradial synost... ORPHA:3404
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Toe syndactyly, Hypoplastic iliac wing, Tubul... OMIM:211910
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Micrognathia, Camptodactyly, Flexion contracture of toe, Fibular hypoplasia, Ost... OMIM:300373
Kinsship Syndrome
Dislocated radial head, Polydactyly, Pes planus, Mesomelia, Fibular hypoplasia, Hip dislocation, ... OMIM:619297
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Fibular hypoplasia, Small hand, Hyperglycemia, Micrognathia, Brachydactyly, Hypo... ORPHA:444077
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Micrognathia, Asplenia, Annular pancreas OMIM:265380
Osteoporosis
OMIM:166710

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 Pdlim4

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 Pdlim4.

No publications found that use IMPC mice or data for Pdlim4.

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MGI Allele Allele Type Produced
Pdlim4tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pdlim4tm37806(pL1L2_GT2_DelLacZ_bsd) Targeting vectors
Pdlim4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pdlim4em2(IMPC)Ics Exdel Mice
Pdlim4tm301216(L1L2_Bact_P) Targeting vectors

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