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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
abnormal behavior	Pacs2^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	2.63×10^-07
decreased prepulse inhibition	Pacs2^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	2.02×10^-05
decreased hemoglobin content	Pacs2^{tm1a(EUCOMM)Hmgu}	HOM	Early adult	1.46×10^-05
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

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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.

Human diseases associated with Pacs2 (2 diseases)
Human diseases predicted to be associated with Pacs2 (190 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		Clinodactyly of the 5th finger, Anemia, Neutropenia	OMIM:618067
Non-Specific Early-Onset Epileptic Encephalopathy		Tremor	ORPHA:442835

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

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	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	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Slc35A2-Cdg	Increased circulating thyroglobulin level, Camptodactyly of finger, Coxa valga, Metatarsus adduct...	ORPHA:356961
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Hypocal...	OMIM:607143
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia	OMIM:300946
Tibial Hemimelia	Absent tibia	OMIM:275220
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
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, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra...	OMIM:307800
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ...	OMIM:164900
Hereditary Methemoglobinemia	Athetosis, Methemoglobinemia, Limb dystonia	ORPHA:621
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Short tibia...	ORPHA:96334
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Increased mean corpusc...	OMIM:612561
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaph...	OMIM:260400
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Micrognathia, Microcytic anemia, Short toe, Talipes equinovarus, HbH hemoglobin	ORPHA:98791
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Beta-Thalassemia Major	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231214
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Ankle clonus, Exaggerated startle response, Pes cavus, Absent Achilles reflex	OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ankle clonus, Exaggerated startle response, Overlapping toe	OMIM:618598
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Hypoplastic vertebral bodies, Flared iliac wing...	ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Genu recurvatum, Overlapping toe, Hip dislocation,...	OMIM:617301
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Hyporeflexia of lower limbs, Exaggerated startle response, Pes cavus	ORPHA:320406
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Hyperekplexia 1	Exaggerated startle response, Hip dislocation	OMIM:149400
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Micrognathia, Absent thumb, Erythroid hypoplasia, ...	ORPHA:124
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip...	OMIM:208500
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Diamond-Blackfan Anemia 1	11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Short thumb, Ab...	OMIM:105650
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Clinodactyly of the 5th finger, Truncal titubation	OMIM:618056
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee...	ORPHA:521426
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Micrognathia	OMIM:617101
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Quadriceps muscle atrophy, Tre...	ORPHA:845
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Hydrolethalus Syndrome 1	Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Tapered finger, Absent frontal sinuses, Coxa valga, Reduced alpha/beta synthesis ratio, Hypochrom...	OMIM:301040
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long finge...	OMIM:617527
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Talipes equinovarus, Clinodactyly of the 5th finger, Anemia, Brachydactyly	ORPHA:847
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Calf muscle hypertrophy, Exaggerated startle response, Elevated circulating creatine kinase conce...	OMIM:253800
Asparagine Synthetase Deficiency	Exaggerated startle response, Micrognathia, Tremor, Large hands, Long foot, Hypoasparaginemia	OMIM:615574
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Sandhoff Disease	Exaggerated startle response, Hepatosplenomegaly	OMIM:268800
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Exaggerated startle response, Short femur, Tapered finger	OMIM:618367
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short...	OMIM:218330
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo...	OMIM:214800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Short foot, Short 5th finge...	OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Decreased serum iron, Hip dysplasia, Dystonia, Anemia	ORPHA:438213
Developmental And Epileptic Encephalopathy 66	Clinodactyly of the 5th finger, Anemia, Neutropenia	OMIM:618067
Non-Specific Early-Onset Epileptic Encephalopathy	Tremor	ORPHA:442835

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.

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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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