Gene Summary

Name:
phosphofurin acidic cluster sorting protein 2
Synonyms:
6720425G15Rik,  Pacs1l

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
short tibia Pacs2tm1a(EUCOMM)Hmgu HOM Early adult 1.76×10-05
increased circulating alkaline phosphatase level Pacs2tm1a(EUCOMM)Hmgu HOM Early adult 2.31×10-05
increased startle reflex Pacs2tm1a(EUCOMM)Hmgu HOM Early adult 2.96×10-28
abnormal behavior Pacs2tm1a(EUCOMM)Hmgu HOM   Early adult 2.63×10-07
decreased hemoglobin content Pacs2tm1a(EUCOMM)Hmgu HOM   Early adult 1.46×10-05
increased total body fat amount Pacs2tm1a(EUCOMM)Hmgu HOM Early adult 2.72×10-05

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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.

Phenotype associated images not available

Human diseases caused by Pacs2 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 Pacs2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 66
Clinodactyly of the 5th finger, Neutropenia, Anemia OMIM:618067

The table below shows human diseases predicted to be associated to Pacs2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Flexi... OMIM:200700
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
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
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
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
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Stuve-Wiedemann Syndrome
Abnormal dental enamel morphology, Short phalanx of finger, Micrognathia, Femoral bowing, Elbow f... OMIM:601559
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
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
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
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
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short... OMIM:607143
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... ORPHA:79106
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Aplasia/hypoplasia... ORPHA:356961
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Micrognathia, Po... ORPHA:1106
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Hydrocephalus With Associated Malformations
Omphalocele, Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, Abnormal foo... OMIM:236640
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Mesomelia,... OMIM:268305
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Short thumb, Micro... OMIM:227270
Omodysplasia 1
Hypoplastic distal humeri, Limited knee extension, Rhizomelia, Short humerus, Limited knee flexio... OMIM:258315
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
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
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
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnor... ORPHA:848
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Thrombocytopenia, Clinodactyly o... ORPHA:3320
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Flar... OMIM:602111
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Tibial Hemimelia
Absent tibia OMIM:275220
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Shox-Related Short Stature
Genu valgum, Ulnar radial head dislocation, Tibial bowing, Forearm undergrowth, Lower limb underg... ORPHA:314795
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Polycythemia, Methemoglobinemia OMIM:250800
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Absent glenoid fossa, Epiphyseal stippling, Camptodactyly, Omphalocele, Metatarsus adductus, Inte... ORPHA:96334
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Split hand, Short humerus,... OMIM:171480
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Omphalocele, Tibial bowing, Lower limb undergrowth, Sple... ORPHA:3035
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic pubic bone, Short ribs, Short long bone,... OMIM:617925
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin, Short toe, Talipes equinovarus, Micrognathia ORPHA:98791
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Persistence of hemoglobin F, Short thumb, Increased mean corpuscular volume,... OMIM:612561
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Shwachman-Diamond Syndrome 1
Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, P... OMIM:260400
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Coxa valga OMIM:164900
Occipital Horn Syndrome
Large iliac wing, Pes planus, Abnormality of fibula morphology, Aplastic clavicle, Hip dysplasia,... ORPHA:198
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Rhizom... OMIM:108720
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... OMIM:600002
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Omphaloc... OMIM:304120
Hyperekplexia 1
Exaggerated startle response, Inguinal hernia, Hip dislocation, Umbilical hernia OMIM:149400
Dominant Beta-Thalassemia
Genu valgum, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpu... ORPHA:231226
Beta-Thalassemia Major
Genu valgum, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpu... ORPHA:231214
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Anemia, Phocomelia, Edema of the do... OMIM:274000
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Fibrochondrogenesis 1
Posterior vertebral hypoplasia, Rhizomelia, Camptodactyly, Hypoplastic scapulae, Broad long bones... OMIM:228520
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato... ORPHA:231222
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowing OMIM:113470
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Seckel Syndrome 1
Enamel hypoplasia, Dislocated radial head, Hypoplasia of proximal fibula, Talipes, Pes planus, El... OMIM:210600
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture, Pes cavus OMIM:609541
Glycine Encephalopathy With Normal Serum Glycine
Arthrogryposis multiplex congenita, Overlapping toe, Genu recurvatum, Flexion contracture, Exagge... OMIM:617301
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
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Hand polydactyly, Toe syndactyly, Split hand, Hypop... OMIM:200980
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ankle clonus, Overlapping toe OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Hyporeflexia of lower limbs, Exaggerated startle response, Multiple joint contractures, Pes cavus ORPHA:320406
Hydrolethalus Syndrome 1
Postaxial hand polydactyly, Preaxial hand polydactyly, Upper limb undergrowth, Accessory spleen, ... OMIM:236680
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, Umbilical hernia, Radial devia... OMIM:301040
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Acromelic Frontonasal Dysplasia
Midline central nervous system lipomas, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibi... ORPHA:1827
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Hypoplastic scapulae, Shortening of all phal... OMIM:114290
Gm1 Gangliosidosis Type 1
Abnormality of odontoid tissue, Broad long bone diaphyses, Flared iliac wing, Flattened femoral h... ORPHA:79255
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Blackfan-Diamond Anemia
Triphalangeal thumb, Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red ... ORPHA:124
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, Radial deviation of finger, Cl... OMIM:141750
Campomelic Dysplasia
Hypoplastic inferior ilia, Bowing of the long bones, Tibial bowing, Short long bone, Fibular hypo... ORPHA:140
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... OMIM:208500
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response, Anemia OMIM:184850
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shaped long bone, ... ORPHA:3144
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Split hand, Phocomelia, Elbow flexion contracture, Femoral bowing, Hypoplas... OMIM:276820
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Brachydactyly, Anemia, Talipes equinovarus, Clinodactyly of the 5th finger, ... ORPHA:847
Plaa-Associated Neurodevelopmental Disorder
Rocker bottom foot, Postaxial hand polydactyly, Long fingers, Exaggerated startle response, Posta... ORPHA:521426
Asparagine Synthetase Deficiency
Exaggerated startle response, Micrognathia, Large hands, Long foot OMIM:615574
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Palmoplantar hyperhidrosis, Postaxial polydactyly, Exaggerated startle respon... OMIM:617527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Exaggerated startle ... OMIM:253800
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Hypocalcemia, Short toe, Triphalangeal hallux, Broad toe, Rhizomelia, Short hu... OMIM:218330
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Decreased HDL cholesterol co... ORPHA:330015
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Tremor, Limited knee extension, Ankle clonus, Increased serum beta-hexosaminidase, Exaggerated st... ORPHA:845
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Short metatarsal, Toe syndactyly, Hypoplastic iliac wing, Tubul... OMIM:211910
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Micrognathia, Camptodactyly, Flexion contracture of toe, Omphalocele, Fibular hy... OMIM:300373
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly OMIM:268800
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Kinsship Syndrome
Dislocated radial head, Polydactyly, Pes planus, Mesomelia, Fibular hypoplasia, Hip dislocation, ... OMIM:619297
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hip dysplasia, Decreased serum iron, Exaggerated startle response, Anemia, Uterine prolapse ORPHA:438213
Developmental And Epileptic Encephalopathy 66
Clinodactyly of the 5th finger, Neutropenia, Anemia OMIM:618067
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Fibular hypoplasia, Small hand, Micrognathia, Brachydactyly, Hypoplasia of proxi... ORPHA:444077

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 Pacs2

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 Pacs2.

No publications found that use IMPC mice or data for Pacs2.

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MGI Allele Allele Type Produced
Pacs2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pacs2tm80423(L1L2_Bact_P) Targeting vectors

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