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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 Pdlim4em1(IMPC)Ics HOM Early adult 4.47×10-05
improved glucose tolerance Pdlim4em1(IMPC)Ics HOM Early adult 5.69×10-06
decreased circulating glucose level Pdlim4em1(IMPC)Ics HOM   Early adult 9.00×10-05
decreased locomotor activity Pdlim4em1(IMPC)Ics HOM   Early adult 7.44×10-06
short tibia Pdlim4em1(IMPC)Ics HOM Early adult 3.34×10-05
increased anxiety-related response Pdlim4em1(IMPC)Ics HOM Early adult 2.90×10-05
abnormal pancreas morphology Pdlim4em1(IMPC)Ics HOM Early adult 0.00
abnormal behavior Pdlim4em1(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

10 Images

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Gross Pathology and Tissue Collection

Images

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A 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
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia, Irritability OMIM:240800
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Wolfram-Like Syndrome
Glucose intolerance, Progressive cerebellar ataxia, Depression, Anxiety, Diabetes mellitus, Centr... ORPHA:411590
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis OMIM:261650
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short long bone, Acet... ORPHA:1505
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... OMIM:607143
3-Methylglutaconic Aciduria Type 1
Hypoglycemia, Progressive cerebellar ataxia, Hepatomegaly ORPHA:67046
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, Micrognathia, Cryptorchidism ORPHA:2849
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Slc35A2-Cdg
Inability to walk, Talipes equinovarus, Short tibia, Aplasia/hypoplasia involving bones of the ex... ORPHA:356961
Neonatal Hemochromatosis
Hypoglycemia, Micrognathia, Prolonged neonatal jaundice, Congenital hepatic fibrosis ORPHA:446
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Mater... ORPHA:1988
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Glucocorticoid Resistance, Generalized
Hypoglycemia, Anxiety OMIM:615962
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormality of the hallux, Ataxia, Exocrine pancreatic insufficiency, Hepatomegaly, Ulnar deviati... ORPHA:456312
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Lethargy, Irritability ORPHA:2089
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Hypoglycem... ORPHA:369
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Stiff Person Spectrum Disorder
Agoraphobia, Emotional lability, Anxiety, Falls, Difficulty walking, Diabetes mellitus ORPHA:3198
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Aceruloplasminemia
Akinesia, Apathy, Ataxia, Abnormal pancreas morphology, Limb ataxia, Gait ataxia, Elevated hepati... ORPHA:48818
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... OMIM:167800
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Elevated circulating follicle stimulating horm... OMIM:609441
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Pancreatic fibrosis, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand ... OMIM:263520
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Jaundice, Short rib... OMIM:208500
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hypoglycemia, Decreased carnitine level in liver, Impaired gluconeogenesis, Recurre... OMIM:212140
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Omodysplasia 1
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... OMIM:258315
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia, Lethargy, Hepatomegaly, Irritability OMIM:229700
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... OMIM:119800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... ORPHA:96334
Hemochromatosis, Neonatal
Hepatocellular necrosis, Cirrhosis, Cholestasis, Hypoglycemia, Hepatic fibrosis, Prolonged neonat... OMIM:231100
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Ataxia, Talipes equinovarus, Hepatomegaly, Dysmetria, Pancreatic fibrosis, Abnormal foot morpholo... OMIM:616263
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... OMIM:617925
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... OMIM:608571
Atelosteogenesis Type I
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... ORPHA:1190
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Postaxial polydactyly, Short ribs, Femoral bowing, Preaxial polydactyly, Pancre... OMIM:615503
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Gait imbalance, Overlapping toe, Ataxia, Clinodactyly of the 5th finger, Microretrognathia, Inabi... ORPHA:488642
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Fasting ... OMIM:613027
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Irritability, Hypoglycemia, Neonatal hypoglycemia, Hepatic steatosis, Lethargy OMIM:212138
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Maple Syrup Urine Disease
Hypoglycemia, Ataxia, Pancreatitis, Lethargy OMIM:248600
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Feingold Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Deviation of the 2nd finger, Brac... ORPHA:1305
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficien... OMIM:260370
Tibial Hemimelia
Absent tibia OMIM:275220
Infantile Liver Failure Syndrome 2
Hypoglycemia, Jaundice, Lethargy OMIM:616483
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Type II diabetes mellitus, Hypoinsulinemia, Pes cavus, Hypoglycemia, Decreased testicular... ORPHA:453533
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... OMIM:108720
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia, Hepatic steatosis, Hepatomegaly, Lethargy OMIM:201450
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Metaphyseal irregularity, 2-3 toe syndactyly, Irregular epiphyses, Brachydactyl... OMIM:618162
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
Campomelia, Cumming Type
Polycystic liver disease, Polysplenia, Pancreatic cysts, Bowing of the long bones OMIM:211890
Pancreatic And Cerebellar Agenesis
Overlapping fingers, Hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus, Hyperglycemia OMIM:609069
Distal Monosomy 12Q
Annular pancreas, Overlapping toe, Pituitary adenoma, Clinodactyly of the 5th finger, 2-3 toe syn... ORPHA:96149
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Occipital Horn Syndrome
Coxa vara, Large iliac wing, Coxa valga, Jaundice, Aplasia/hypoplasia of the humerus, Abnormality... ORPHA:198
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Fibular aplasia OMIM:218550
Bohring-Opitz Syndrome
Overlapping toe, Short toe, Dislocated radial head, Deep plantar creases, Supernumerary nipple, M... OMIM:605039
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... ORPHA:1788
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Acro-Renal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... ORPHA:958
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing OMIM:113470
Fibrochondrogenesis 1
Short palm, Clinodactyly of the 5th finger, Narrow greater sciatic notch, Short ribs, Small hand,... OMIM:228520
Shwachman-Diamond Syndrome 2
Metaphyseal irregularity, Exocrine pancreatic insufficiency, Hepatomegaly, Metaphyseal widening, ... OMIM:617941
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... ORPHA:2879
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Cryptorchidism, Aplasia/Hypoplasia of the tibia, Hypopituitarism, Patellar h... ORPHA:1827
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Hypoglyc... OMIM:232220
Feingold Syndrome 1
Annular pancreas, Short toe, 2-3 toe syndactyly, Micrognathia, Accessory spleen, Aplasia/Hypoplas... OMIM:164280
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... OMIM:211350
Acrorenal-Mandibular Syndrome
Absent nipple, Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary ... OMIM:200980
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... OMIM:601027
Hydrolethalus Syndrome 1
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... OMIM:236680
Campomelia, Cumming Type
Hepatomegaly, Brachydactyly, Micromelia, Abnormality of the pancreas, Bowing of the long bones, C... ORPHA:1318
Matthew-Wood Syndrome
Annular pancreas, Abnormal spleen morphology, Cryptorchidism, Aplasia/Hypoplasia of the pancreas ORPHA:2470
Trisomy 8P
Annular pancreas, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th finger, Crypto... ORPHA:264450
Jacobsen Syndrome
Annular pancreas, Long hallux, Short toe, Toe clinodactyly, Broad hallux phalanx, Pes planus, Tal... ORPHA:2308
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Pancreatic fibrosis, Type I diabetes mellitus, M... OMIM:557000
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Cryptorchidism, Short ribs, Increased fibular diameter, Hypoplastic... ORPHA:3144
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... OMIM:610199
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... ORPHA:64744
Campomelic Dysplasia
Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi... ORPHA:140
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs, Hypoplasia... OMIM:266910
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Hepatic fibrosis, Poly... OMIM:200995
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of the hand, Carpal... OMIM:276820
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Ataxia, Hepatomegaly, Hypoplasia of the capit... OMIM:266920
Meckel Syndrome
Micrognathia, Pancreatic fibrosis, Accessory spleen, Congenital hepatic fibrosis, Postaxial hand ... ORPHA:564
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Talipes equinovarus, Cryptorchidism, Small hand, Micrognathia, Congenital hip d... OMIM:268400
Pearson Syndrome
Hypoparathyroidism, Ataxia, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased response t... ORPHA:699
Bohring-Opitz Syndrome
Cholelithiasis, Happy demeanor, Metacarpophalangeal joint contracture, Inability to walk, Annular... ORPHA:97297
Fanconi Anemia, Complementation Group D2
Annular pancreas, Absent thumb, Partial duplication of thumb phalanx, Absent radius, Short thumb,... OMIM:227646
Campomelic Dysplasia
Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial... OMIM:114290
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Abnormal salivary gland morphology, Abnormality of th... ORPHA:449432
Senior-Loken Syndrome 8
Pancreatic cysts, Polydactyly, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Diabe... ORPHA:93111
Meckel Syndrome, Type 7
Hepatosplenomegaly, Cholestasis, Postaxial foot polydactyly, Portal hypertension, Bile duct proli... OMIM:267010
1P36 Deletion Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Self-injurious behavior, Camptodactyly of finge... ORPHA:1606
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... ORPHA:116
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Short toe, Hepatomegaly, Short ribs, Short humerus, Brachydactyly... OMIM:218330
Visceral Steatosis, Congenital
Hypoglycemia, Hepatic steatosis, Jaundice, Lethargy OMIM:228100
Jacobsen Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Missing ribs, Cryp... OMIM:147791
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Absent testis, Micrognathia, Preaxial hand po... ORPHA:2753
Charge Syndrome
Hypoparathyroidism, Absent tibia, Decreased response to growth hormone stimulation test, Bilatera... OMIM:214800
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Cryptorchidism, Diabetes mellitus ORPHA:261265
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Overlapping toe, Tibial bowing, Annular pancreas, Hepatoblastoma,... ORPHA:798
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Absent gallbladder, Aplasia/Hyp... ORPHA:556955
Fryns Syndrome
Short distal phalanx of finger, Microretrognathia, Prominent fingertip pads, Ectopic pancreatic t... OMIM:229850
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Syndactyly, Cryptorchidism, Hip d... OMIM:616975
Camptodactyly Syndrome, Guadalajara, Type I
Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... OMIM:211910
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs,... ORPHA:3404
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Micrognathia, Asplenia 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
Pdlim4tm301216(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pdlim4tm37806(pL1L2_GT2_DelLacZ_bsd) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pdlim4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pdlim4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pdlim4em1(IMPC)Ics Deletion Mice

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