Gene Summary

Name:
developmental pluripotency associated 1
Synonyms:
N/A

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
abnormal spleen morphology Dppa1tm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Dppa1tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased lean body mass Dppa1tm1a(KOMP)Wtsi HOM Early adult 2.94×10-06
increased bone mineral density Dppa1tm1a(KOMP)Wtsi HOM Early adult 4.34×10-08
embryonic lethality prior to organogenesis Dppa1tm1b(KOMP)Wtsi HOM   E9.5 0.00
increased respiratory quotient Dppa1tm1a(KOMP)Wtsi HOM   Early adult 1.16×10-06
increased food intake Dppa1tm1a(KOMP)Wtsi HOM   Early adult 5.41×10-05
abnormal embryo turning Dppa1tm1b(KOMP)Wtsi HET E9.5 0.00
abnormal pericardium morphology Dppa1tm1b(KOMP)Wtsi HET E9.5 0.00

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote Ambiguous
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 100% (2 of 2)
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Cranium N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Femur pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head mesenchyme N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart ventricle N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Inner ear N/A heterozygote 100% (2 of 2)
Intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Mesonephros of female N/A heterozygote 50% (1 of 2)
Mesonephros of male N/A heterozygote 50% (1 of 2)
Metanephros N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nasal septum N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (2 of 2)
Notochord N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Outflow tract N/A heterozygote 100% (2 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 100% (2 of 2)
Pharynx N/A heterozygote 100% (2 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Rib pre-cartilage condensation N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Trunk mesenchyme N/A heterozygote 100% (2 of 2)
Umbilical artery embryonic part N/A heterozygote 100% (2 of 2)
Umbilical vein embryonic part N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.72% (4 of 555)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cecum 5.65% (20 of 354)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
esophagus 1.8% (7 of 388)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
mesenteric lymph node 0.34% (1 of 294)
olfactory lobe 0.37% (2 of 543)
oral epithelium 0.0%
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
parathyroid gland 0.19% (1 of 526)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
testis 1.09% (6 of 552)
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.37% (2 of 535)
vas deferens 4.49% (16 of 356)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 2.04% (1 of 49)
axial skeleton 2.38% (1 of 42)
brain 1.74% (6 of 344)
central nervous system ganglion 2.17% (1 of 46)
cranium 0.0%
dorsal root ganglion 0.0%
ear 0.29% (1 of 341)
embryo 0.28% (1 of 353)
external ear 2.13% (1 of 47)
eye 0.0%
femur pre-cartilage condensation 0.0%
footplate 0.28% (1 of 358)
forearm 0.0%
forebrain 0.29% (1 of 347)
forelimb 0.27% (1 of 376)
fronto-nasal process 2.13% (1 of 47)
gut 2.56% (1 of 39)
handplate 0.29% (1 of 348)
head 1.12% (4 of 357)
head mesenchyme 2.5% (1 of 40)
heart 0.27% (1 of 366)
heart ventricle 0.0%
hindbrain 0.57% (2 of 348)
hindlimb 0.29% (1 of 341)
humerus pre-cartilage condensation 0.0%
inner ear 0.0%
intestine 2.33% (1 of 43)
liver 0.3% (1 of 338)
lower leg 0.0%
lung 0.29% (1 of 342)
mandibular process 0.29% (1 of 343)
maxillary process 0.29% (1 of 347)
mesonephros of female 3.12% (1 of 32)
mesonephros of male 0.0%
metanephros 2.63% (1 of 38)
midbrain 0.28% (1 of 354)
nasal septum 2.13% (1 of 47)
nose 1.89% (1 of 53)
notochord 2.38% (1 of 42)
oral cavity 0.0%
outflow tract 0.0%
pancreas 2.44% (1 of 41)
pericardium 2.38% (1 of 42)
pharynx 2.78% (1 of 36)
radius-ulna pre cartilage condensation 2.33% (1 of 43)
rib pre-cartilage condensation 2.44% (1 of 41)
skeleton 1.79% (1 of 56)
skin 0.29% (1 of 348)
spinal cord 0.0%
stomach 0.0%
tail 0.28% (1 of 354)
tail somite group 0.3% (1 of 337)
thoracic vertebral cartilage condensation 2.44% (1 of 41)
tongue 2.38% (1 of 42)
trachea 2.17% (1 of 46)
trunk mesenchyme 2.86% (1 of 35)
umbilical artery embryonic part 0.0%
umbilical vein embryonic part 0.0%
upper arm 0.48% (1 of 210)
upper leg 0.49% (1 of 204)
urinary system 0.0%
vibrissa 0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

13 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Skull Lateral Orientation

23 Images

X-ray

XRay Images Whole Body Dorso Ventral

24 Images

X-ray

XRay Images Forepaw

25 Images

X-ray

XRay Images Whole Body Lateral Orientation

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

25 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Legacy Phenotype Associated Images

View all 74 images

Human diseases caused by Dppa1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dppa1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Increased bone mineral density OMIM:618406
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Polyphagia OMIM:248100
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Melorheostosis
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... ORPHA:2485
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia ORPHA:329249
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia, Abnormal eating behavior OMIM:614962
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Polyphagia ORPHA:71529
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia OMIM:617119
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Obesity Due To Sim1 Deficiency
Obesity, Polyphagia ORPHA:369873
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Polyphagia OMIM:609734
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71526
Leptin Receptor Deficiency
Obesity, Polyphagia, Abnormal eating behavior OMIM:614963
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia OMIM:616521
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia ORPHA:177910
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Pick Disease Of Brain
Polyphagia OMIM:172700
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Body Mass Index Quantitative Trait Locus 19
Obesity, Polyphagia OMIM:617885
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Polyphagia ORPHA:411515
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Frontotemporal Dementia
Polyphagia OMIM:600274
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis... OMIM:259700
Bardet-Biedl Syndrome 9
Obesity, Polydipsia, Polyphagia, Truncal obesity OMIM:615986
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... ORPHA:90650
Temple Syndrome
Obesity, Polyphagia, Small for gestational age ORPHA:254516
Schaaf-Yang Syndrome
Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex congenita, Obesity, Fail... OMIM:615547
Spondyloepiphyseal Dysplasia Tarda
Failure to thrive, Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Lim... ORPHA:93284
Graves Disease, Susceptibility To, 1
Polyphagia, Weight loss OMIM:275000
Huntington Disease
Decreased body mass index, Polyphagia, Weight loss, Choking episodes, Oral-pharyngeal dysphagia ORPHA:399
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Polyphagia ORPHA:276556
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Polyphagia, Small for gestational age ORPHA:324575
Diastrophic Dysplasia
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density ORPHA:628
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Polyphagia ORPHA:276575
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Failure to thrive OMIM:615085
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Polyphagia ORPHA:276580
Majeed Syndrome
Failure to thrive, Osteomyelitis, Increased bone mineral density, Flexion contracture, Cachexia, ... ORPHA:77297
Dysosteosclerosis
Recurrent fractures, Coarse metaphyseal trabecularization, Increased bone mineral density, Cranio... ORPHA:1782
Albers-Schönberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Osteoarthritis, Arthritis, Generali... ORPHA:53
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Man1B1-Cdg
Polyphagia, Truncal obesity, Joint hypermobility ORPHA:397941
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification ORPHA:163649
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Failure to thrive, Increased bone mineral density, Osteopenia, Osteoporosis,... OMIM:239000
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... OMIM:259710
Cebalid Syndrome
Polyphagia OMIM:618774
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia OMIM:606407
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bone mineral density ORPHA:94089
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Luscan-Lumish Syndrome
Obesity, Advanced ossification of carpal bones, Polyphagia OMIM:616831
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Polyphagia, Obesity, Craniosynostosis ORPHA:251004
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Camurati-Engelmann Disease
Slender build, Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sc... OMIM:131300
Pediatric-Onset Graves Disease
Failure to thrive, Polydipsia, Polyphagia, Craniosynostosis ORPHA:525731
Pycnodysostosis
Increased bone mineral density, Coronal craniosynostosis, Generalized osteosclerosis, Joint laxit... ORPHA:763
Insulinoma
Increased body weight, Polyphagia ORPHA:97279
Trisomy 18P
Polyphagia ORPHA:1715
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased suscepti... OMIM:224300
Gaucher Disease Type 1
Increased bone mineral density, Osteopenia, Osteoarthritis, Pathologic fracture, Osteolysis ORPHA:77259
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Weight loss, Sclerosis of hand bone, Acrocyanosis ORPHA:2905
Obesity Due To Congenital Leptin Deficiency
Obesity, Polyphagia ORPHA:66628
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Osteopenia, Osteoporosis, Polyphagia, Obesity ORPHA:398079
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Polyphagia ORPHA:179494
Werner Syndrome
Slender build, Joint stiffness, Osteoporosis, Increased bone mineral density ORPHA:902
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss, Polyphagia ORPHA:95427
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Recurrent fractures OMIM:611490
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Small for gestational age, Osteopenia, Bulimia, Osteoporosis, Polyphagia, Obesity ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Osteopenia, Bulimia, Osteoporosis, Polyphagia, Obesity ORPHA:98793
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Osteopenia, Bulimia, Osteoporosis, Polyphagia, Obesity ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Osteopenia, Bulimia, Osteoporosis, Polyphagia, Obesity ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Flexion contracture, Osteopenia, Osteoporosis, Polyphagia, ... ORPHA:398069
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Desmosterolosis
Osteopetrosis, Failure to thrive, Increased bone mineral density ORPHA:35107
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Polyphagia, Increased susceptibility to fractures, Generalized joint laxity ORPHA:251028
Prader-Willi-Like Syndrome
Failure to thrive, Small for gestational age, Osteopenia, Bulimia, Osteoporosis, Polyphagia, Obesity ORPHA:398073
Erdheim-Chester Disease
Polydipsia, Osteomyelitis, Increased bone mineral density, Osteolysis, Weight loss ORPHA:35687
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Polyphagia, Obesity, Increased bone mineral density ORPHA:79444
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Reduced bone mineral density, Ectopic ossification, Hyperostosis ... ORPHA:79443
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Osteopenia, Osteoporosis, Polyphagia, Increased susceptibil... ORPHA:739
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Cranial hyperostosis, Increased bone mineral density, Decreased osteoclast count OMIM:259720
Otopalatodigital Syndrome Type 2
Carpal synostosis, Failure to thrive, Increased bone mineral density, Abnormal vertebral segmenta... ORPHA:90652
Prader-Willi Syndrome
Abdominal obesity, Osteopenia, Osteoporosis, Polyphagia, Obesity, Failure to thrive in infancy OMIM:176270
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Obesity, Polyphagia OMIM:612469
Schwartz-Jampel Syndrome
Joint stiffness, Hip contracture, Decreased body weight, Increased bone mineral density, Abnormal... ORPHA:800
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Increased bone mineral density, Osteopenia, ... ORPHA:355
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Angelman Syndrome
Dysphagia, Obesity, Polyphagia ORPHA:72
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Hyperoxaluria, Primary, Type I
Acrocyanosis, Increased bone mineral density, Pathologic fracture OMIM:259900
X-Linked Hypophosphatemia
Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebral hyperostosis, Generalized os... ORPHA:89936
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Osteopetrosis, Joint hyperflexibility, Abnormal ... ORPHA:2658
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Weaver Syndrome
Joint contracture of the hand, Limited elbow extension, Camptodactyly, Polyphagia, Limited knee e... OMIM:277590
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis OMIM:259730
Trichothiodystrophy
Multiple joint contractures, Osteopenia, Increased bone mineral density, Craniosynostosis ORPHA:33364
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia OMIM:156200
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density, Small for gestational age OMIM:127000
7Q11.23 Microduplication Syndrome
Tracheomalacia, Craniosynostosis, Polyphagia, Joint hypermobility, Obesity ORPHA:96121
Gangliocytoma
Polyphagia ORPHA:251937
Raine Syndrome
Increased bone mineral density, Arthrogryposis multiplex congenita, Subperiosteal bone formation OMIM:259775
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Desmosterolosis
Failure to thrive, Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis mult... OMIM:602398
Craniopharyngioma
Obesity, Polyphagia, Increased susceptibility to fractures ORPHA:54595
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Gaucher Disease Type 3
Osteolysis, Increased bone mineral density, Increased susceptibility to fractures ORPHA:77261
Adnp Syndrome
Polyphagia, Joint laxity, Truncal obesity, Oral-pharyngeal dysphagia ORPHA:404448
Primary Hyperoxaluria
Recurrent fractures, Generalized osteosclerosis, Failure to thrive, Acrocyanosis ORPHA:416
Atypical Werner Syndrome
Failure to thrive, Decreased body weight, Increased bone mineral density, Reduced bone mineral de... ORPHA:79474
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... OMIM:119600
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity, Cyanosis, Polyphagia, Polydipsia ORPHA:293987
Lipodystrophy, Congenital Generalized, Type 1
Cystic angiomatosis of bone, Polyphagia OMIM:608594
1P36 Deletion Syndrome
Joint stiffness, Failure to thrive, Camptodactyly of finger, Polyphagia, Dysphagia, Obesity ORPHA:1606
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Lipodystrophy, Congenital Generalized, Type 2
Cystic angiomatosis of bone, Polyphagia OMIM:269700
Williams Syndrome
Joint stiffness, Increased bone mineral density, Osteopenia, Osteoporosis, Failure to thrive in i... ORPHA:904
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Recurrent fractures, Reduced bone mineral density, Craniosynostosis ORPHA:667
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Camptodactyly, Polyphagia, Dysphagia, Obesity OMIM:607872
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures, Failure to thrive ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Sclerosis of skull base, Failure to thrive, Thickened cortex of ... OMIM:269150
Alström Syndrome
Obesity, Truncal obesity, Polyphagia, Hyperostosis frontalis interna ORPHA:64

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 Dppa1

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 Dppa1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dppa1tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dppa1tm1a(KOMP)Wtsi