Gene Summary

pleiomorphic adenoma gene 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
decreased CD8-positive, naive alpha-beta T cell number Plag1em1(IMPC)Hmgu HOM   Early adult 4.74×10-05
increased grip strength Plag1em1(IMPC)Hmgu HOM   Early adult 1.97×10-05
increased circulating aspartate transaminase level Plag1em1(IMPC)Hmgu HOM Early adult 2.73×10-05
decreased startle reflex Plag1em1(IMPC)Hmgu HOM Early adult 8.10×10-05
short tibia Plag1em1(IMPC)Hmgu HOM Early adult 1.76×10-18
abnormal head morphology Plag1em1(IMPC)Hmgu HOM Early adult 1.14×10-20
abnormal bone structure Plag1em1(IMPC)Hmgu HOM Early adult 1.01×10-11
abnormal auditory brainstem response Plag1em1(IMPC)Hmgu HOM   Early adult 4.33×10-05
increased red blood cell distribution width Plag1em1(IMPC)Hmgu HOM Early adult 4.42×10-06
abnormal snout morphology Plag1em1(IMPC)Hmgu HOM Early adult 2.07×10-17
decreased body length Plag1em1(IMPC)Hmgu HOM Early adult 4.24×10-09

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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.


XRay Images Whole Body Lateral Orientation

19 Images


XRay Images Whole Body Dorso Ventral

20 Images

Human diseases caused by Plag1 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 Plag1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Dysmenorrhea, Cryptorchidism, Small placenta, Bifid scrotum, Pos... ORPHA:397590
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Silver-Russell Syndrome 4
Birth length less than 3rd percentile OMIM:618907

The table below shows human diseases predicted to be associated to Plag1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Shor... ORPHA:93323
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Hypogonadism OMIM:616113
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Splenomegaly, Con... OMIM:616860
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity, Tal... OMIM:601382
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Low-set ears, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodacty... OMIM:201170
Stuve-Wiedemann Syndrome 1
Talipes, Osteoporosis, Micrognathia, Short tibia, Short nose, Bowing of the long bones, Metaphyse... OMIM:601559
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
EEG with focal epileptiform discharges, Aplasia/hypoplasia involving bones of the extremities, Cr... ORPHA:356961
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Epicanthus, External genital hypoplasia, Short stature, Postnatal growth retardation OMIM:612947
Congenital Disorder Of Glycosylation, Type Ig
Short ribs, Sensorineural hearing impairment, Hypocalcemia, Sandal gap, Rhizomelia, Hypoplasia of... OMIM:607143
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Reduced haptoglobin level, Anisocytosis, Spherocytosis, He... ORPHA:71275
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Ankle flexion contracture, Absen... OMIM:617519
Dominant Beta-Thalassemia
Bowing of the long bones, Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration... ORPHA:231226
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Optic disc pallor, Elliptocytosis, Decreased mean cor... OMIM:616959
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent radius, Low-set ears, Oligodactyly, Micrognathia, Micromelia, Short tibi... OMIM:251230
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Low-set ears, Hand polydactyly, Mi... OMIM:258860
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Hi... OMIM:609945
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Cryptorchidism, Micropenis, Postnatal growth retardation, Decrea... OMIM:614732
Acrocraniofacial Dysostosis
Craniosynostosis, Conductive hearing impairment, Sensorineural hearing impairment, Micrognathia, ... OMIM:201050
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
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
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Ankle clonus, Dystonia, Generalized dystonia, Foc... ORPHA:52368
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Cupped ear, Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna... OMIM:119100
Chromosome 16Q22 Deletion Syndrome
Upslanted palpebral fissure, Short palpebral fissure, Cryptorchidism, Growth delay, Highly arched... OMIM:614541
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Craniosynostosis, Cone-shaped metacarpal epiphyses, Coxa valga, Short ... OMIM:250215
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Increased circulating ferritin concentration, Head titubation, Absent brain... ORPHA:3240
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Low-set ears, Preaxial foot polydactyly, Short femu... ORPHA:1988
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Growth delay, Male pseudohermaphroditism, Narrow palpebral fissure, Postna... OMIM:600122
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic ane... OMIM:618278
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Talipes cavus equinovarus, Decreased ner... OMIM:601455
3-Methylglutaconic Aciduria, Type V
Intrauterine growth retardation, Cryptorchidism, Postnatal growth retardation, Hypospadias, Decre... OMIM:610198
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviat... OMIM:268305
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Pes cavus, Decreased motor nerve conduction velocity, Prolonge... OMIM:601596
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Hand polydactyly, Short tibia OMIM:258865
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Leukopenia, Abnormal circulating porphyrin co... ORPHA:79277
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Atelosteogenesis Type Iii
Vertebral hypoplasia, Absent humerus, Absent radius, Epiphyseal stippling of the humerus, Microgn... ORPHA:56305
Omodysplasia 1
Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Wide nasal bridge, Limited knee flexi... OMIM:258315
Arthrogryposis, Distal, Type 2A
Hearing impairment, Rocker bottom foot, Wide nasal bridge, Knee flexion contracture, Abnormal aud... OMIM:193700
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic a... ORPHA:529808
Caffey Disease
Bowing of the legs, Cortical irregularity, Tibial bowing, Periosteal thickening of long tubular b... OMIM:114000
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia, Hypoalbu... ORPHA:529799
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Sensorineural hearing impai... ORPHA:3320
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad first metatarsal, Y-shaped metacarpals, Conductive hearing impairment, C... ORPHA:2751
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Dysmenorrhea, Cryptorchidism, Small placenta, Bifid scrotum, Pos... ORPHA:397590
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Hypoplastic pubic bone, Short long bone, Low-set ears, Fibular ... OMIM:617925
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Hypoplastic iliac ... ORPHA:96334
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Microphthalmia With Limb Anomalies
Toe syndactyly, Hand oligodactyly, Low-set ears, Fibular hypoplasia, Postaxial foot polydactyly, ... OMIM:206920
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Coxa valga, Hip dislocation OMIM:109120
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Intrauterine growth retardation, Cryptorchidism, Ptosis, Postnatal growth retardat... ORPHA:2728
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
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
3Mc Syndrome
Blepharophimosis, Supernumerary nipple, Telecanthus, Ptosis, Highly arched eyebrow, Downslanted p... ORPHA:293843
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Pes cavus, Absent Achilles reflex, ... ORPHA:1215
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Patellar hypoplasia, Low-set ears, Absent tibia, Talipes equinovar... OMIM:119800
Tibia, Absence Of, With Congenital Deafness
Hearing impairment, Absent tibia OMIM:275230
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:300554
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, ... OMIM:227270
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Pes cavus, P... ORPHA:206443
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Intrauterine growth retardation, Miscarriage, Bilateral cryptorchidism, Postnatal growth... ORPHA:96179
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Conductive he... OMIM:304120
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Trisomy 10P
Low-set ears, Flexion contracture of thumb, Abnormal foot morphology, Micrognathia, EEG with burs... ORPHA:171929
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Short nose, Brachydactyly, Short h... OMIM:108720
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyndactyly of ... OMIM:263520
Occipital Horn Syndrome
Pes planus, Osteoporosis, Osteomalacia, Genu valgum, Hip dysplasia, Rickets, Hip dislocation, Bra... ORPHA:198
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Action tremor... ORPHA:99027
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Dystonia, Resting tremor, Abnormality of the Achi... ORPHA:909
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Proximal lower limb amyotrophy, Sensorineural hearing impairment, Head tremor, Optic... ORPHA:101085
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor, Irregul... OMIM:619260
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Increased blood urea nitrogen, Anemia, Macrotia, A... ORPHA:90321
Fibrochondrogenesis 1
Hypoplastic ischia, Short palm, Low-set ears, Fibular hypoplasia, Posterior vertebral hypoplasia,... OMIM:228520
Postaxial Acrofacial Dysostosis
Cryptorchidism, Micropenis, Supernumerary nipple, Growth delay, Eyelid coloboma, Downslanted palp... OMIM:263750
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Anemia, Patellar dis... OMIM:274000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Long nose, Abnormal ilium morphology, Opisthotonus, Decreased proportion of CD4-positive helper T... ORPHA:508533
Ophthalmomandibulomelic Dysplasia
Coxa valga, Fibular hypoplasia, Ulnar deviated club hands, Lateral humeral condyle aplasia, Radia... OMIM:164900
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Postaxial foot polydactyly, Rocker bottom foot, Sensorineural hearing impairment, Edema... ORPHA:521426
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Abnormal trabecular bone morphology, Increased bo... ORPHA:289176
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Adult Krabbe Disease
Pes cavus, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Low-set ears, Fibular hypoplasia, Poorly oss... ORPHA:140
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Pes cavus, Absent Achilles reflex, Optic disc pallor, Exaggerated startle response, Optic atrophy... OMIM:609541
Hepatosplenomegaly, Dystonia, Sensorineural hearing impairment, Overlapping fingers, Absent brain... ORPHA:79330
Infantile Krabbe Disease
Opisthotonus, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials... ORPHA:206436
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Hypoplasia o... ORPHA:958
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Phocomelia, Schinzel Type
Bowing of the long bones, Talipes, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hy... ORPHA:2879
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Overlapping toe, Ankle clonus, Exaggerated startle response OMIM:618598
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Mend Syndrome
2-3 toe syndactyly, Elevated 8-dehydrocholesterol, Low-set ears, Overlapping fingers, Hand polyda... ORPHA:401973
Brachymesomelia-Renal Syndrome
Low-set ears, Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulnar bowing, Mesomelic... OMIM:113470
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hepatosplenomegaly, Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic n... OMIM:609136
Tibial Hemimelia
Absent tibia OMIM:275220
Cockayne Syndrome B
Square pelvis bone, Ivory epiphyses of the phalanges of the hand, Sensorineural hearing impairmen... OMIM:133540
Asparagine Synthetase Deficiency
Long foot, Micrognathia, Macrotia, Exaggerated startle response, Large hands, Hypsarrhythmia OMIM:615574
Gm1 Gangliosidosis Type 1
Short long bone, Hepatosplenomegaly, Low-set ears, Hypoplastic vertebral bodies, Flared iliac win... ORPHA:79255
Boomerang Dysplasia
Fibular aplasia, Wide nasal bridge, Hypoplastic iliac body, Absent radius OMIM:112310
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Hyporeflexia of lower limbs, Pes cavus, Optic disc pallor, Exaggerated startle response, Optic at... ORPHA:320406
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
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... OMIM:276820
Hydrolethalus Syndrome 1
Low-set ears, Accessory spleen, Upper limb undergrowth, Duplication of phalanx of hallux, Microgn... OMIM:236680
Cockayne Syndrome A
Square pelvis bone, Ivory epiphyses of the phalanges of the hand, Sensorineural hearing impairmen... OMIM:216400
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Missing ribs, Foot polydactyly, Hypoplasia of the ulna, Low-s... OMIM:200980
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Overlapping toe, Hand clenching, Genu recurvatum, Exaggerated startle response, Tal... OMIM:617301
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Palmoplantar hyperhidrosis, Low-set ears, Postaxial polydactyly, Rocker bottom foot, Micrognathia... OMIM:617527
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Tay-Sachs Disease
Ankle clonus, Dystonia, Increased serum beta-hexosaminidase, Limited knee extension, Quadriceps m... ORPHA:845
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Broad distal phalanges of all finger... OMIM:218330
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Fibular hypoplasia, Paranasal sinus hypoplasia, Conductive hearing impairment, Clin... OMIM:300373
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly ORPHA:1827
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Dystonia, Wide nasal bridge, Exaggerated startle response ORPHA:438216
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
Camptodactyly Syndrome, Guadalajara, Type I
Small earlobe, Fibular hypoplasia, Twelfth rib hypoplasia, Hypoplastic iliac wing, Hallux valgus,... OMIM:211910
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Incre... ORPHA:3144
Orofaciodigital Syndrome Type 4
Genu varum, Finger syndactyly, Low-set ears, Conductive hearing impairment, Aplasia/Hypoplasia of... ORPHA:2753
Hyperekplexia 1
Hip dislocation, Exaggerated startle response OMIM:149400
Charge Syndrome
Bilateral talipes equinovarus, Cupped ear, Hypoplasia of the ulna, Low-set ears, Absent tibia, Ab... OMIM:214800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Optic atrophy, Calf muscle hypertrophy, Exagg... OMIM:253800
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, Broad toe, Small earlobe, Low-set ears, Clinodactyly of the 5th finger, Tapered finger... OMIM:619522
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Kinsship Syndrome
Coxa valga, Osteopenia, Low-set ears, Fibular hypoplasia, Pes planus, Dislocated radial head, Mic... OMIM:619297
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Brachydactyly, Cupped ear, Hypoplasia of proximal radius, Fibular hypoplasia, Conductive hearing ... ORPHA:444077
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Osteopenia, Decreased serum iron, Osteoporosis, Anemia, Optic disc pallor, Exaggerated ... ORPHA:438213
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Silver-Russell Syndrome 4
Birth length less than 3rd percentile OMIM:618907


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.

Phenotype Allele Zygosity Sex Life Stage
Lymph node - hyperplasia Plag1em1(IMPC)Hmgu HOM Early adult

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 Plag1.

No publications found that use IMPC mice or data for Plag1.

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MGI Allele Allele Type Produced
Plag1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Plag1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Plag1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Plag1em1(IMPC)Hmgu Exon Deletion Mice

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