Gene Summary

Name:
ADP-ribosylserine hydrolase
Synonyms:
Adprhl2,  Arh3

IMPC Data Collections

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
increased circulating alkaline phosphatase level Adprsem1(IMPC)Wtsi HOM Early adult 5.94×10-06
increased body length Adprsem1(IMPC)Wtsi HOM   Early adult 5.42×10-06
decreased total body fat amount Adprsem1(IMPC)Wtsi HOM Early adult 3.74×10-05
increased lean body mass Adprsem1(IMPC)Wtsi HOM Early adult 6.19×10-06
increased bone mineral density Adprsem1(IMPC)Wtsi HOM Early adult 8.94×10-06

Download data as:  TSV  XLS

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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.

Legacy Phenotype Associated Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
OMIM:618170

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture, Connective tissue nevi OMIM:166700
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density, Tall stature OMIM:618406
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... OMIM:241520
Melorheostosis
Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, Arthritis, Atypical scarr... ORPHA:2485
Isolated Osteopoikilosis
Keloids, Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal... ORPHA:166119
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology, Tal... ORPHA:3152
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density, Decreased body weight, Umbilic... OMIM:614856
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, C... ORPHA:1306
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Hydroxyprolinemia, Osteoporosis, Hyperuricemia, Increased bone mineral density, Recurr... OMIM:239000
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Path... OMIM:259700
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hypocalcemic tetany, Hypocalcemic seizures, Diaphysea... ORPHA:94089
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density OMIM:231095
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalcemia, Rec... ORPHA:53
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Failure to thrive, Knee osteoarthritis, Abnormal epiphyseal ossification, Loc... ORPHA:93284
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Dysosteosclerosis
Abnormal dental enamel morphology, Coarse metaphyseal trabecularization, Craniofacial hyperostosi... ORPHA:1782
Diastrophic Dysplasia
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger ORPHA:628
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Slender build, Reduced subcutaneous adipose tissue, D... OMIM:131300
Majeed Syndrome
Cachexia, Synovitis, Failure to thrive, Increased susceptibility to fractures, Weight loss, Osteo... ORPHA:77297
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hyperph... ORPHA:36913
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis OMIM:615085
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Enamel hypomineralization, Increased bone mineral density ORPHA:3352
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Osteopetrosis, Autosomal Recessive 2
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... OMIM:259710
Pycnodysostosis
Generalized osteosclerosis, Increased susceptibility to fractures, Osteolytic defects of the dist... ORPHA:763
Werner Syndrome
Chondrocalcinosis, Osteoporosis, Lipodystrophy, Slender build, Lipoatrophy, Increased bone minera... ORPHA:902
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... OMIM:112250
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... ORPHA:2780
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Thickened cortex of long bones, Increased bone mineral density, Hypoca... OMIM:127000
Poems Syndrome
Sclerosis of foot bone, Weight loss, Lipodystrophy, Sclerosis of hand bone, Sclerosis of skull base ORPHA:2905
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Ectopic ossification, Enamel hypoplasia, ... ORPHA:79444
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Hypophosphatemia, ... ORPHA:89936
Gaucher Disease Type 1
Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Osteolysis ORPHA:77259
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... OMIM:224300
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Ectopic ossification, Reduced bone minera... ORPHA:79443
Schwartz-Jampel Syndrome
Cachexia, Shoulder flexion contracture, Hip contracture, Flexion contracture of toe, Elevated cir... ORPHA:800
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Abnormal dental enamel morphology, Increased bone mineral... ORPHA:1798
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Omphalocele, Failure to thrive, Abnormal vertebral segmentation and fusion, Sy... ORPHA:90652
Desmosterolosis
Failure to thrive, Osteopetrosis, Increased bone mineral density ORPHA:35107
Trichothiodystrophy
Absence of subcutaneous fat, Craniosynostosis, Osteopenia, Enamel hypoplasia, Increased bone mine... ORPHA:33364
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Abnormal dental enamel morphology, Abnormal cortical bone morphol... ORPHA:2658
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Hypophosphatemia, Increased bone mineral d... OMIM:259775
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Hypocalcemia OMIM:618476
Desmosterolosis
Abnormal circulating cholesterol concentration, Failure to thrive, Generalized osteosclerosis, Ar... OMIM:602398
Gaucher Disease
Osteoarthritis, Arthrogryposis multiplex congenita, Abnormal bone structure, Osteopenia, Osteomye... ORPHA:355
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Atypical Werner Syndrome
Chondrocalcinosis, Failure to thrive, Osteoporosis, Generalized lipodystrophy, Sclerosis of hand ... ORPHA:79474
Erdheim-Chester Disease
Weight loss, Osteolysis, Increased bone mineral density, Osteomyelitis ORPHA:35687
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Hyperoxaluria OMIM:259900
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Gaucher Disease Type 3
Increased susceptibility to fractures, Increased bone mineral density, Osteolysis ORPHA:77261
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Overgrowth, Sclerotic scapulae, Cortically dense ... OMIM:269500
Cleidocranial Dysplasia
Increased susceptibility to fractures, Enamel hypoplasia, Delayed pubic bone ossification, Increa... OMIM:119600
Primary Hyperoxaluria
Failure to thrive, Generalized osteosclerosis, Recurrent fractures, Hyperoxaluria ORPHA:416
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Williams Syndrome
Hypercalcemia, Failure to thrive in infancy, Abnormal circulating lipid concentration, Elevated c... ORPHA:904
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Failure to thrive, Osteopetrosis, Hypocalcemi... ORPHA:2785
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures OMIM:612301
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Craniosynostosis, Hypophosphatemia, Reduced bone mineral density, Hypocalcemia, Re... ORPHA:667
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Thickened cortex of long bones, Increased density of long bones, Failure... OMIM:269150
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
OMIM:618170

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 Adprs

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 Adprs.

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

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MGI Allele Allele Type Produced
Adprstm372512(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Adprsem1(IMPC)Wtsi Deletion Mice
Adprstm1aNarl KO first allele (reporter-tagged insertion with conditional potential) ES Cells

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