Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Pacs2 MGI:1924399

Gene Summary

Name:

phosphofurin acidic cluster sorting protein 2

Synonyms:

6720425G15Rik, Pacs1l

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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	Allele	Zyg	Life Stage	P Value
increased startle reflex	Pacs2^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	2.96×10^-28
short tibia	Pacs2^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.76×10^-05
increased circulating alkaline phosphatase level	Pacs2^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	3.21×10^-05
decreased hemoglobin content	Pacs2^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.46×10^-05
decreased prepulse inhibition	Pacs2^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	2.02×10^-05
abnormal behavior	Pacs2^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	2.63×10^-07

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

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.

Human diseases associated with Pacs2 (1 diseases)
Human diseases predicted to be associated with Pacs2 (180 diseases)

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		Anemia, Clinodactyly of the 5th finger, Neutropenia	OMIM:618067

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

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Syndactyly Type 4	Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ...	ORPHA:93405
Acromesomelic Dysplasia 2C	Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr...	OMIM:201250
Acromesomelic Dysplasia 2A	Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate...	OMIM:200700
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys...	OMIM:607778
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
Langer Mesomelic Dysplasia	Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul...	OMIM:249700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia	OMIM:246570
Leri-Weill Dyschondrosteosis	Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia...	OMIM:127300
Acheiropody	Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h...	OMIM:200500
Fibular Hemimelia	Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombocytopenia, Abnorma...	ORPHA:93323
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp...	ORPHA:1972
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia	OMIM:188740
Léri-Weill Dyschondrosteosis	Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn...	ORPHA:240
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
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
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ...	ORPHA:1986
Mesomelic Dysplasia, Savarirayan Type	Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H...	OMIM:605274
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
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
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Endove Syndrome, Limb-Only Type	Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy...	OMIM:619217
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Orofaciodigital Syndrome Type 10	Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn...	ORPHA:2756
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Laurin-Sandrow Syndrome	Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B...	OMIM:135750
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Dyschondrosteosis And Nephritis	Ulnar bowing, Short tibia, Radial bowing, Short forearm	OMIM:127350
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Tibial Hemimelia	Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,...	ORPHA:93322
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Splenomegaly	ORPHA:46532
Orofaciodigital Syndrome Viii	Short tibia, Syndactyly, Polydactyly	OMIM:300484
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ...	OMIM:201170
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia...	ORPHA:3329
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Blount Disease	Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the...	ORPHA:2768
Weismann-Netter Syndrome	Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo...	ORPHA:3344
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened...	ORPHA:93356
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
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
Acromesomelic Dysplasia 2B	Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing...	OMIM:228900
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
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia...	OMIM:607143
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Orofaciodigital Syndrome Iv	Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand...	OMIM:258860
Multiple Epiphyseal Dysplasia With Robin Phenotype	Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem...	OMIM:601560
Eiken Syndrome	Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor...	ORPHA:79106
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen...	OMIM:613673
Mesomelic Dysplasia, Savarirayan Type	Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen...	ORPHA:85170
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia	OMIM:613977
Short Rib-Polydactyly Syndrome	Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M...	ORPHA:1505
Metaphyseal Dysplasia, Braun-Tinschert Type	Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis...	ORPHA:85188
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Slc35A2-Cdg	Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, Aplasia/hypoplasia i...	ORPHA:356961
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Microcephaly-Micromelia Syndrome	Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu...	OMIM:251230
Robin Sequence With Cleft Mandible And Limb Anomalies	Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M...	OMIM:268305
Stuve-Wiedemann Syndrome 1	Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t...	OMIM:601559
Multiple Epiphyseal Dysplasia, Lowry Type	Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati...	ORPHA:166016
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Laurin-Sandrow Syndrome	Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati...	ORPHA:2378
Acheiropodia	Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho...	ORPHA:931
Microphthalmia With Limb Anomalies	Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq...	ORPHA:1106
Atelosteogenesis Type Iii	Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper...	ORPHA:56305
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Orofaciodigital Syndrome Ix	Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly	OMIM:258865
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ...	OMIM:609945
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol...	ORPHA:2634
Metaphyseal Acroscyphodysplasia	Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ...	OMIM:250215
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl...	OMIM:113310
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial...	OMIM:227270
Acromesomelic Dysplasia 3	Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac...	OMIM:609441
Beta-Thalassemia	Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th...	ORPHA:848
Femoral-Facial Syndrome	Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio...	ORPHA:1988
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol...	OMIM:613091
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
Spondyloepimetaphyseal Dysplasia, Missouri Type	Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ...	OMIM:602111
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad...	ORPHA:3320
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
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Ulnar/Fibular Ray Defect And Brachydactyly	Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila...	OMIM:608571
Tibial Hemimelia	Absent tibia	OMIM:275220
Ulna And Fibula, Hypoplasia Of	Hypoplasia of the ulna, Fibular hypoplasia	OMIM:191400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G...	OMIM:171480
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Omodysplasia 1	Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S...	OMIM:258315
Hypophosphatemic Rickets, X-Linked Dominant	Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu...	OMIM:307800
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,...	OMIM:164900
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Orofaciodigital Syndrome Type 2	Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar...	ORPHA:2751
Hereditary Methemoglobinemia	Methemoglobinemia, Limb dystonia, Athetosis	ORPHA:621
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Micrognathia, Macrocytic anemia, ...	OMIM:612561
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met...	ORPHA:96334
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty...	OMIM:617925
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli...	OMIM:263520
Shwachman-Diamond Syndrome 1	Coxa vara, Neutropenia, Narrow greater sciatic notch, Metaphyseal sclerosis, Persistence of hemog...	OMIM:260400
Microphthalmia With Limb Anomalies	Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia...	OMIM:206920
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses	OMIM:166740
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia	OMIM:618849
Dyggve-Melchior-Clausen Disease	Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge...	OMIM:223800
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short toe, Talipes equinovarus, Micrognathia, Microcytic anemia, HbH hemoglobin	ORPHA:98791
Eiken Syndrome	Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o...	OMIM:600002
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers...	ORPHA:231226
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ...	ORPHA:231214
Atelosteogenesis, Type I	Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon...	OMIM:108720
Otopalatodigital Syndrome, Type Ii	Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul...	OMIM:304120
Thrombocytopenia-Absent Radius Syndrome	Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat...	OMIM:274000
Acrofacial Dysostosis, Rodríguez Type	Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou...	ORPHA:1788
Beta-Thalassemia Intermedia	Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E...	ORPHA:231222
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Brachymesomelia-Renal Syndrome	Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing	OMIM:113470
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly	OMIM:165590
Acro-Renal-Mandibular Syndrome	Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib...	ORPHA:958
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
Fibrochondrogenesis 1	Short palm, Clinodactyly of the 5th finger, Narrow greater sciatic notch, Short ribs, Small hand,...	OMIM:228520
Kyphomelic Dysplasia	Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho...	OMIM:211350
Spastic Tetraplegia And Axial Hypotonia, Progressive	Overlapping toe, Ankle clonus, Exaggerated startle response	OMIM:618598
Occipital Horn Syndrome	Coxa vara, Large iliac wing, Coxa valga, Aplasia/hypoplasia of the humerus, Abnormality of the pu...	ORPHA:198
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Ankle clonus, Pes cavus, Absent Achilles reflex, Exaggerated startle response	OMIM:609541
Phocomelia, Schinzel Type	Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi...	ORPHA:2879
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	Talipes equinovarus, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemog...	OMIM:141750
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o...	OMIM:208500
Blackfan-Diamond Anemia	Increased mean corpuscular volume, Neutropenia, Absent thumb, Persistence of hemoglobin F, Microg...	ORPHA:124
Stiff-Person Syndrome	Anemia, Exaggerated startle response, Opisthotonus	OMIM:184850
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath...	OMIM:608643
Acrorenal-Mandibular Syndrome	Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary fibula, Rudimen...	OMIM:200980
Hyperekplexia 1	Hip dislocation, Exaggerated startle response	OMIM:149400
Campomelic Dysplasia	Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi...	ORPHA:140
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Hydrolethalus Syndrome 1	Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under...	OMIM:236680
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Pes cavus, Hyporeflexia of lower limbs, Exaggerated startle response	ORPHA:320406
Gm1 Gangliosidosis Type 1	Broad metacarpals, Flattened femoral head, Hypoplastic vertebral bodies, Exaggerated startle resp...	ORPHA:79255
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Talipes equinovarus, Reduced alpha/beta synthesis ratio, Tapered finger, Hypochromic microcytic a...	OMIM:301040
Acromelic Frontonasal Dysplasia	Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia	ORPHA:1827
Glycine Encephalopathy With Normal Serum Glycine	Overlapping toe, Genu recurvatum, Talipes equinovarus, Exaggerated startle response, Hip dislocat...	OMIM:617301
Schneckenbecken Dysplasia	Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli...	ORPHA:3144
Plaa-Associated Neurodevelopmental Disorder	Edema of the dorsum of feet, Exaggerated startle response, Hyperextensibility of the finger joint...	ORPHA:521426
Asparagine Synthetase Deficiency	Micrognathia, Large hands, Exaggerated startle response, Long foot	OMIM:615574
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
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
Campomelic Dysplasia	Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial...	OMIM:114290
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Lead Poisoning	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Imbalanced hemo...	ORPHA:330015
Tay-Sachs Disease	Quadriceps muscle atrophy, Laryngeal dystonia, Exaggerated startle response, Increased serum beta...	ORPHA:845
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Clinodactyly of the 5th finger, Talipes equinovarus, Brachydactyly, Anemia	ORPHA:847
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Thymoma	Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia	ORPHA:99867
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Palmoplantar hyperhidrosis, Exaggerated startle response, Postaxial polydactyly, Micrognathia, Lo...	OMIM:617527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Exaggerated startle ...	OMIM:253800
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Short toe, Hypocalcemia, Short ribs, Short humerus, Brachydactyly...	OMIM:218330
Camptodactyly Syndrome, Guadalajara, Type I	Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor...	OMIM:211910
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Preaxial hand polydactyly, Camp...	ORPHA:2753
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Sandhoff Disease	Hepatosplenomegaly, Exaggerated startle response	OMIM:268800
Charge Syndrome	Absent tibia, Hypocalcemia, Lymphopenia, Bilateral talipes equinovarus, Absent radius, Micrognath...	OMIM:214800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Clinodactyly of the 5th finger, Exaggerated startle response, Short 5th finger, Tapered finger, S...	OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Decreased serum iron, Anemia, Hip dysplasia, Dystonia	ORPHA:438213
Developmental And Epileptic Encephalopathy 66	Anemia, Clinodactyly of the 5th finger, Neutropenia	OMIM:618067

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele	Allele Type	Produced
Pacs2^{tm80423(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pacs2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pacs2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us