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

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
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 1.69% (1 of 59)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
cranium 1.59% (1 of 63)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
femur pre-cartilage condensation 1.85% (1 of 54)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
head mesenchyme 1.69% (1 of 59)
heart 0.2% (1 of 507)
heart ventricle 1.69% (1 of 59)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
inner ear 1.59% (1 of 63)
intestine 1.75% (1 of 57)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
mesonephros of female 1.85% (1 of 54)
mesonephros of male 1.85% (1 of 54)
metanephros 1.85% (1 of 54)
midbrain 0.2% (1 of 507)
nasal septum 1.69% (1 of 59)
nose 1.3% (1 of 77)
notochord 1.69% (1 of 59)
oral cavity 0.2% (1 of 502)
outflow tract 1.69% (1 of 59)
pancreas 1.85% (1 of 54)
pericardium 1.85% (1 of 54)
pharynx 1.82% (1 of 55)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
rib pre-cartilage condensation 1.79% (1 of 56)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
stomach 1.85% (1 of 54)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
thoracic vertebral cartilage condensation 1.85% (1 of 54)
tongue 1.85% (1 of 54)
trachea 1.72% (1 of 58)
trunk mesenchyme 1.69% (1 of 59)
umbilical artery embryonic part 1.69% (1 of 59)
umbilical vein embryonic part 1.69% (1 of 59)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
urinary system 1.72% (1 of 58)
vibrissa 1.37% (1 of 73)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

25 Images

X-ray

XRay Images Whole Body Dorso Ventral

24 Images

X-ray

XRay Images Forepaw

25 Images

Adult LacZ

LacZ Images Wholemount

13 Images

X-ray

XRay Images Skull Lateral Orientation

23 Images

Embryo LacZ

LacZ images wholemount

4 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B 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
Increased bone mineral density, Polyphagia, Obesity OMIM:618406
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis 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
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
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, Polyphagia, Obesity OMIM:248100
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... 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
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity ORPHA:329249
Leptin Deficiency Or Dysfunction
Abnormal eating behavior, Polyphagia, Obesity OMIM:614962
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Polyphagia, Obesity ORPHA:71529
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Obesity Due To Sim1 Deficiency
Polyphagia, Obesity ORPHA:369873
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Polyphagia, Failure to thrive, Obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Polyphagia, Failure to thrive, Obesity ORPHA:71526
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Decreased body weight, Increased bone mineral density OMIM:614856
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Obesity OMIM:614963
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, 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
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Frontotemporal Dementia
Polyphagia OMIM:600274
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Graves Disease, Susceptibility To, 1
Polyphagia, Weight loss OMIM:275000
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity ORPHA:411515
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fracture, Failure to ... OMIM:259700
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Schaaf-Yang Syndrome
Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contracture, Failure to th... OMIM:615547
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Temple Syndrome
Small for gestational age, Polyphagia, Obesity ORPHA:254516
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Small for gestational age, Polyphagia ORPHA:324575
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Polyphagia ORPHA:276556
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
Diastrophic Dwarfism
Joint hyperflexibility, Joint stiffness, Camptodactyly of finger, Increased bone mineral density ORPHA:628
Majeed Syndrome
Flexion contracture, Synovitis, Weight loss, Increased bone mineral density, Increased susceptibi... ORPHA:77297
Albers-Schönberg Osteopetrosis
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoarthritis, Osteom... ORPHA:53
Dysosteosclerosis
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Recurrent fractures, Increased b... ORPHA:1782
Man1B1-Cdg
Joint hypermobility, Truncal obesity, Polyphagia ORPHA:397941
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Increased bone mineral density ORPHA:163649
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Osteopetrosis, Cranial hyperostosis, Mandibular osteomyelitis, Osteomyelitis... OMIM:259710
Osteopetrosis With Renal Tubular Acidosis
Reduced bone mineral density, Recurrent fractures, Osteopetrosis, Failure to thrive ORPHA:2785
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive OMIM:606407
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Recurrent fractures, Ankylosis, Increased bone mineral density OMIM:239000
Cebalid Syndrome
Polyphagia OMIM:618774
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Absent ossification of calvaria, Absent ossific... OMIM:601376
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bone mineral density ORPHA:94089
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density ORPHA:85184
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Polyphagia, Obesity OMIM:616831
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Osteopathia Striata-Cranial Sclerosis Syndrome
Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ... ORPHA:2780
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Insulinoma
Increased body weight, Polyphagia ORPHA:97279
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Recurrent fractures, Polyphagia, Obesity ORPHA:251004
Pediatric-Onset Graves Disease
Craniosynostosis, Polydipsia, Polyphagia, Failure to thrive ORPHA:525731
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Enthesitis, Incr... ORPHA:289176
Sim1-Related Prader-Willi-Like Syndrome
Osteoporosis, Polyphagia, Failure to thrive, Abdominal obesity, Osteopenia, Obesity ORPHA:398079
Trisomy 18P
Polyphagia ORPHA:1715
Dysosteosclerosis
Sclerosis of hand bone, Clavicular sclerosis, Increased susceptibility to fractures, Sclerotic sc... OMIM:224300
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Poems Syndrome
Acrocyanosis, Sclerosis of hand bone, Weight loss, Sclerosis of foot bone, Sclerosis of skull base ORPHA:2905
Gaucher Disease Type 1
Osteolysis, Increased bone mineral density, Pathologic fracture, Osteopenia, Osteoarthritis ORPHA:77259
Camurati-Engelmann Disease
Slender build, Cortical thickening of long bone diaphyses, Increased bone mineral density, Sclero... OMIM:131300
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Obesity ORPHA:66628
Magel2-Related Prader-Willi-Like Syndrome
Osteoporosis, Polyphagia, Flexion contracture, Increased body weight, Failure to thrive, Abdomina... ORPHA:398069
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Obesity ORPHA:179494
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteoporosis, Polyphagia, Small for gestational age, Failure to thrive, Bulimia, Osteopenia, Obesity ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteoporosis, Polyphagia, Small for gestational age, Failure to thrive, Bulimia, Osteopenia, Obesity ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteoporosis, Polyphagia, Small for gestational age, Failure to thrive, Bulimia, Osteopenia, Obesity ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteoporosis, Polyphagia, Small for gestational age, Failure to thrive, Bulimia, Osteopenia, Obesity ORPHA:177901
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Increased susceptibility to fractures, Polyphagia, Generalized joint laxity ORPHA:251028
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification, Polyphagia, Obesity ORPHA:79444
Pseudohypoparathyroidism Type 1A
Polyphagia, Increased bone mineral density, Reduced bone mineral density, Ectopic ossification, H... ORPHA:79443
Prader-Willi-Like Syndrome
Osteoporosis, Polyphagia, Small for gestational age, Failure to thrive, Bulimia, Osteopenia, Obesity ORPHA:398073
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Carpal synostosis, Increa... ORPHA:90652
Desmosterolosis
Osteopetrosis, Failure to thrive, Increased bone mineral density ORPHA:35107
Prader-Willi Syndrome
Osteoporosis, Polyphagia, Failure to thrive in infancy, Abdominal obesity, Osteopenia, Obesity OMIM:176270
Werner Syndrome
Slender build, Joint stiffness, Osteoporosis, Increased bone mineral density ORPHA:902
Erdheim-Chester Disease
Osteolysis, Weight loss, Increased bone mineral density, Polydipsia, Osteomyelitis ORPHA:35687
Prader-Willi Syndrome
Osteoporosis, Polyphagia, Increased susceptibility to fractures, Failure to thrive, Abdominal obe... ORPHA:739
Mental Retardation, Autosomal Dominant 1
Polyphagia OMIM:156200
Schwartz-Jampel Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Flexion contracture of toe, Decreased body weig... ORPHA:800
Hyperoxaluria, Primary, Type I
Acrocyanosis, Pathologic fracture, Increased bone mineral density OMIM:259900
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Gaucher Disease
Arthrogryposis multiplex congenita, Osteolysis, Dysphagia, Recurrent fractures, Increased bone mi... ORPHA:355
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Lenz-Majewski Hyperostotic Dwarfism
Joint hyperflexibility, Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increa... ORPHA:2658
X-Linked Hypophosphatemia
Craniosynostosis, Rickets, Generalized osteosclerosis, Enthesitis, Reduced bone mineral density, ... ORPHA:89936
Angelman Syndrome
Dysphagia, Polyphagia, Obesity ORPHA:72
Trichothiodystrophy
Osteopenia, Craniosynostosis, Multiple joint contractures, Increased bone mineral density ORPHA:33364
Kenny-Caffey Syndrome, Type 2
Small for gestational age, Thickened cortex of long bones, Increased bone mineral density OMIM:127000
Gangliocytoma
Polyphagia ORPHA:251937
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density OMIM:259775
7Q11.23 Microduplication Syndrome
Joint hypermobility, Craniosynostosis, Polyphagia, Obesity ORPHA:96121
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Craniopharyngioma
Increased susceptibility to fractures, Polyphagia, Obesity ORPHA:54595
Gaucher Disease Type 3
Osteolysis, Increased susceptibility to fractures, Increased bone mineral density ORPHA:77261
Primary Hyperoxaluria
Acrocyanosis, Recurrent fractures, Generalized osteosclerosis, Failure to thrive ORPHA:416
Desmosterolosis
Joint contracture of the hand, Arthrogryposis multiplex congenita, Generalized osteosclerosis, Fa... OMIM:602398
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Adnp Syndrome
Truncal obesity, Joint laxity, Polyphagia, Oral-pharyngeal dysphagia ORPHA:404448
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis OMIM:259720
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Increased bone mineral density ORPHA:50945
Cleidocranial Dysplasia
Delayed pubic bone ossification, Increased susceptibility to fractures, Increased bone mineral de... OMIM:119600
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Decreased body weight, Increased bone mineral density, Oste... ORPHA:79474
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Polydipsia, Polyphagia, Obesity ORPHA:293987
Lipodystrophy, Congenital Generalized, Type 1
Cystic angiomatosis of bone, Polyphagia OMIM:608594
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... OMIM:269500
Lipodystrophy, Congenital Generalized, Type 2
Cystic angiomatosis of bone, Polyphagia OMIM:269700
1P36 Deletion Syndrome
Camptodactyly of finger, Polyphagia, Dysphagia, Joint stiffness, Failure to thrive, Obesity ORPHA:1606
Williams Syndrome
Osteoporosis, Radioulnar synostosis, Joint laxity, Synostosis of joints, Joint hyperflexibility, ... ORPHA:904
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Thickened cortex of long bones, Sclerosis of skull base, Failure... OMIM:269150
Autosomal Recessive Malignant Osteopetrosis
Reduced bone mineral density, Craniosynostosis, Recurrent fractures, Osteopetrosis ORPHA:667
Chromosome 1P36 Deletion Syndrome
Camptodactyly of finger, Polyphagia, Dysphagia, Camptodactyly, Obesity OMIM:607872
Alström Syndrome
Hyperostosis frontalis interna, Truncal obesity, Polyphagia, Obesity 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