Gene: Sdc2 MGI:1349165

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Gene Summary

Name:
syndecan 2
Synonyms:
fibroglycan,  Synd2,  Hspg1,  4833414L08Rik

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 triglyceride level Sdc2tm1b(KOMP)Wtsi HOM Early adult 3.85×10-07
abnormal lens morphology Sdc2tm1b(KOMP)Wtsi HOM   Early adult 2.23×10-07
decreased total retina thickness Sdc2tm1b(KOMP)Wtsi HOM   Early adult 1.68×10-05
decreased red blood cell distribution width Sdc2tm1b(KOMP)Wtsi HOM   Early adult 7.57×10-05
abnormal coat/hair pigmentation Sdc2tm1b(KOMP)Wtsi HOM Early adult 3.92×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
Cranium  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 50% (1 of 2)
Submandibular gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney 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)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve 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)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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)
blood 0.0%
bone 0.0%
bone marrow 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)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
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)
main olfactory bulb 0.0%
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)
parotid gland 0.0%
penis 0.0%
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)
sciatic nerve 0.0%
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)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

5 Images

Human diseases caused by Sdc2 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 Sdc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fish-Eye Disease
OMIM:136120
Occipital Hair, White Lock Of
OMIM:310900
Dilution, Pigmentary
OMIM:126070
Tietz Syndrome
ORPHA:42665
Woolly Hair
ORPHA:170
Griscelli Syndrome, Type 3
OMIM:609227
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
OMIM:300719
Atherosclerosis Susceptibility
OMIM:108725
Lecithin:Cholesterol Acyltransferase Deficiency
OMIM:245900
Albinism, Oculocutaneous, Type Iv
OMIM:606574
Hyperlipoproteinemia, Type Ii, And Deafness
OMIM:144300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
ORPHA:766
Hemophagocytic Lymphohistiocytosis, Familial, 3
OMIM:608898
Uncombable Hair Syndrome 2
OMIM:617251
Loose Anagen Hair Syndrome
OMIM:600628
Niemann-Pick Disease, Type B
OMIM:607616
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
OMIM:603529
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
OMIM:618808
Albinism, Oculocutaneous, Type Iii
OMIM:203290
Cholesterol-Ester Transfer Protein Deficiency
ORPHA:79506
Yemenite Deaf-Blind Hypopigmentation Syndrome
OMIM:601706
Oculocutaneous Albinism, Type Viii
OMIM:619165
Albinism, Oculocutaneous, Type Ib
OMIM:606952
Glycogen Storage Disease Vi
OMIM:232700
Griscelli Syndrome Type 3
ORPHA:79478
Iron-Refractory Iron Deficiency Anemia
OMIM:206200
Glycogen Storage Disease Ixa1
OMIM:306000
Griscelli Syndrome, Type 1
OMIM:214450
Proteasome-Associated Autoinflammatory Syndrome 5
OMIM:619175
Waardenburg Syndrome, Type 2B
OMIM:600193
Retinitis Pigmentosa And Erythrocytic Microcytosis
OMIM:616959
Anemia, Congenital Dyserythropoietic, Type Ib
OMIM:615631
Hermansky-Pudlak Syndrome 3
OMIM:614072
Hemophagocytic Lymphohistiocytosis, Familial, 4
OMIM:603552
Griscelli Syndrome Type 1
ORPHA:79476
Coronary Artery Disease, Autosomal Dominant 2
OMIM:610947
Retinitis Pigmentosa 84
OMIM:618220
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
ORPHA:1067
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
ORPHA:366
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
ORPHA:436182
Hypercholesterolemia, Familial, 4
OMIM:603813
Hemolytic Anemia Due To Glutathione Reductase Deficiency
OMIM:618660
Thrombocytopenia With Congenital Dyserythropoietic Anemia
ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ia
OMIM:224120
Exudative Vitreoretinopathy 2, X-Linked
OMIM:305390
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
ORPHA:90023
Wagner Vitreoretinopathy
OMIM:143200
Uncombable Hair Syndrome
ORPHA:1410
Griscelli Syndrome, Type 2
OMIM:607624
Hepatic Lipase Deficiency
OMIM:614025
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
OMIM:300835
Albinism, Oculocutaneous, Type Ii
OMIM:203200
Central Retinal Vein Occlusion
ORPHA:411527
Birdshot Chorioretinopathy
ORPHA:179
Lcat Deficiency
ORPHA:650
Coats Disease
ORPHA:190
Iris Pigment Layer, Cleavage Of
OMIM:147610
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
OMIM:616516
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
OMIM:616860
Exudative Vitreoretinopathy 6
OMIM:616468
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
OMIM:613101
Oculocutaneous Albinism Type 3
ORPHA:79433
Morbid Obesity And Spermatogenic Failure
OMIM:615703
Overhydrated Hereditary Stomatocytosis
ORPHA:3203
Waardenburg Syndrome, Type 4B
OMIM:613265
Vitreoretinopathy, Neovascular Inflammatory
OMIM:193235
Vogt-Koyanagi-Harada Disease
ORPHA:3437
Neuroectodermal Melanolysosomal Disease
ORPHA:33445
Megalocornea
OMIM:309300
Hyperlipoproteinemia, Type Iv
OMIM:144600
Hypertriglyceridemia 1
OMIM:145750
Cataract 21, Multiple Types
OMIM:610202
Cone-Rod Dystrophy 16
OMIM:614500
Lipodystrophy, Familial Partial, Type 7
OMIM:606721
Lipodystrophy, Congenital Generalized, Type 3
OMIM:612526
Retinitis Pigmentosa 9
OMIM:180104
Hypertriglyceridemia, Transient Infantile
OMIM:614480
Vitreoretinal Degeneration, Snowflake Type
OMIM:193230
Exudative Vitreoretinopathy 1
OMIM:133780
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
ORPHA:86841
Waardenburg Syndrome, Type 2A
OMIM:193510
Oculocutaneous Albinism Type 4
ORPHA:79435
Lipodystrophy, Familial Partial, Type 5
OMIM:615238
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
ORPHA:2786
Stickler Syndrome Type 2
ORPHA:90654
Glycosylphosphatidylinositol Biosynthesis Defect 17
OMIM:618010
Monilethrix
ORPHA:573
Citrullinemia, Type Ii, Neonatal-Onset
OMIM:605814
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
OMIM:618398
Retinitis Pigmentosa 2
OMIM:312600
Hypotrichosis 8
OMIM:278150
Lipase Deficiency, Combined
OMIM:246650
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
OMIM:300908
Apolipoprotein C-Ii Deficiency
OMIM:207750
Lymphoproliferative Syndrome, X-Linked, 2
OMIM:300635
Protoporphyria, Erythropoietic, 1
OMIM:177000
Waardenburg Syndrome Type 2
ORPHA:895
Congenital Dyserythropoietic Anemia Type Iii
ORPHA:98870
Lipodystrophy, Familial Partial, Type 4
OMIM:613877
Griscelli Syndrome Type 2
ORPHA:79477
Intellectual Developmental Disorder And Retinitis Pigmentosa
OMIM:618195
Exfoliation Syndrome
OMIM:177650
Anterior Segment Dysgenesis 8
OMIM:617319
Ermine Phenotype
OMIM:227010
Oculocutaneous Albinism Type 1
ORPHA:352731
Neutral Lipid Storage Disease With Myopathy
OMIM:610717
Encephalopathy, Progressive, With Or Without Lipodystrophy
OMIM:615924
Retinal Venous Beading
OMIM:180080
Piebald Trait-Neurologic Defects Syndrome
ORPHA:2885
Oculocutaneous Albinism Type 2
ORPHA:79432
Waardenburg-Shah Syndrome
ORPHA:897
Hypobetalipoproteinemia, Familial, 1
OMIM:615558
Myopia, High, With Cataract And Vitreoretinal Degeneration
OMIM:614292
Oculocutaneous Albinism
ORPHA:55
Cholesteryl Ester Storage Disease
ORPHA:75234
Ectopia Lentis Et Pupillae
OMIM:225200
Oculocutaneous Albinism Type 1B
ORPHA:79434
Waardenburg Syndrome, Type 4A
OMIM:277580
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
ORPHA:1355
Focal Segmental Glomerulosclerosis 1
OMIM:603278
Obesity Due To Melanocortin 4 Receptor Deficiency
ORPHA:71529
Lysosomal Acid Lipase Deficiency
OMIM:278000
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
ORPHA:140905
Ataxia With Vitamin 3 Deficiency
OMIM:277460
Temple Syndrome
OMIM:616222
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
ORPHA:247598
Abdominal Obesity-Metabolic Syndrome 4
OMIM:618620
Vitreoretinochoroidopathy
OMIM:193220
Hyperlipidemia, Familial Combined, 3
OMIM:144250
Rajab Interstitial Lung Disease With Brain Calcifications 2
OMIM:619013
Hyperlipoproteinemia, Type I
OMIM:238600
Hemophagocytic Lymphohistiocytosis, Familial, 1
OMIM:267700
Smith-Magenis Syndrome
OMIM:182290
Elejalde Disease
OMIM:256710
Methionine Malabsorption Syndrome
OMIM:250900
Oculoauricular Syndrome
OMIM:612109
Plin1-Related Familial Partial Lipodystrophy
ORPHA:280356
Piebaldism
ORPHA:2884
Chédiak-Higashi Syndrome
ORPHA:167
Lipodystrophy, Familial Partial, Type 3
OMIM:604367
Oculocutaneous Albinism Type 1A
ORPHA:79431
Autosomal Dominant Keratitis
ORPHA:2334
Albinism, Oculocutaneous, Type Ia
OMIM:203100
Tangier Disease
ORPHA:31150
Ermine Phenotype
ORPHA:999
Severe Neurodegenerative Syndrome With Lipodystrophy
ORPHA:363400
Orotic Aciduria
OMIM:258900
Piebald Trait
OMIM:172800
Glycerol Kinase Deficiency
OMIM:307030
Amoebic Keratitis
ORPHA:67043
Waardenburg Syndrome Type 1
ORPHA:894
Congenital Generalized Lipodystrophy
ORPHA:528
Morning Glory Disc Anomaly
ORPHA:35737
Alstrom Syndrome
OMIM:203800
Mandibuloacral Dysplasia
ORPHA:2457
Lipodystrophy, Familial Partial, Type 1
OMIM:608600
Aniridia-Intellectual Disability Syndrome
ORPHA:1068
Citrullinemia, Type Ii, Adult-Onset
OMIM:603471
Prader-Willi Syndrome Due To Imprinting Mutation
ORPHA:177910
Hermansky-Pudlak Syndrome 11
OMIM:619172
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
OMIM:619313
Neutral Lipid Storage Disease With Ichthyosis
ORPHA:98907
Congenital Erythropoietic Porphyria
ORPHA:79277
Griscelli Syndrome
ORPHA:381
Diarrhea 7, Protein-Losing Enteropathy Type
OMIM:615863
Dominant Beta-Thalassemia
ORPHA:231226
Hemophagocytic Lymphohistiocytosis, Familial, 2
OMIM:603553
Chediak-Higashi Syndrome
OMIM:214500
H Syndrome
ORPHA:168569
Akt2-Related Familial Partial Lipodystrophy
ORPHA:79085
Familial Partial Lipodystrophy, Dunnigan Type
ORPHA:2348
Smith-Magenis Syndrome
ORPHA:819
Familial Hemophagocytic Lymphohistiocytosis
ORPHA:540
Squalene Synthase Deficiency
OMIM:618156
Proteasome-Associated Autoinflammatory Syndrome 3
OMIM:617591
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
OMIM:609734
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
ORPHA:3214
Cataract 15, Multiple Types
OMIM:615274
Nephrotic Syndrome, Type 2
OMIM:600995
Nephrotic Syndrome, Type 14
OMIM:617575
Idiopathic Steroid-Resistant Nephrotic Syndrome
ORPHA:567548
Classic Phenylketonuria
ORPHA:79254
Citrullinemia Type Ii
ORPHA:247585
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
OMIM:618278
Glycogen Storage Disease Ixc
OMIM:613027
Dysbetalipoproteinemia
ORPHA:412
Pparg-Related Familial Partial Lipodystrophy
ORPHA:79083
Brittle Cornea Syndrome 1
OMIM:229200
Cidec-Related Familial Partial Lipodystrophy
ORPHA:435651
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
ORPHA:411515
Lmna-Related Cardiocutaneous Progeria Syndrome
ORPHA:363618
Lipe-Related Familial Partial Lipodystrophy
ORPHA:435660
Polycystic Kidney, Cataract, And Congenital Blindness
OMIM:263100
Microtriplication 11Q24.1
ORPHA:289522
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
OMIM:610644
Oculocerebral Hypopigmentation Syndrome, Preus Type
ORPHA:2720
Piebald Trait With Neurologic Defects
OMIM:172850
Familial Chylomicronemia Syndrome
ORPHA:444490
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
ORPHA:264580
Cholestasis-Lymphedema Syndrome
OMIM:214900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
ORPHA:98855
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
OMIM:601375
Waardenburg Syndrome, Type 2E
OMIM:611584
Acquired Hypertrichosis Lanuginosa
ORPHA:2221
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
ORPHA:209902
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
ORPHA:280365
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
OMIM:615381
Alagille Syndrome 1
OMIM:118450
X-Linked Emery-Dreifuss Muscular Dystrophy
ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
ORPHA:261
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
ORPHA:370
Lipodystrophy, Congenital Generalized, Type 4
OMIM:613327
Ataxia-Telangiectasia
ORPHA:100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
ORPHA:247691
Obesity Due To Congenital Leptin Deficiency
ORPHA:66628
Brittle Cornea Syndrome
ORPHA:90354
Hoyeraal-Hreidarsson Syndrome
ORPHA:3322
Acquired Generalized Lipodystrophy
ORPHA:79086
Acrodysostosis 2 With Or Without Hormone Resistance
OMIM:614613
Obesity Due To Leptin Receptor Gene Deficiency
ORPHA:179494
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
OMIM:221900
Obesity Due To Prohormone Convertase I Deficiency
ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
ORPHA:71526
Lysinuric Protein Intolerance
ORPHA:470
Waardenburg Syndrome
ORPHA:3440
Waardenburg Syndrome, Type 4C
OMIM:613266
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
OMIM:604484
Hermansky-Pudlak Syndrome
ORPHA:79430
Seckel Syndrome 10
OMIM:617253
Oculocerebral Hypopigmentation Syndrome, Cross Type
ORPHA:2719
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
OMIM:619074
Waardenburg Syndrome, Type 1
OMIM:193500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
ORPHA:364
Body Mass Index Quantitative Trait Locus 19
OMIM:617885
Proteasome-Associated Autoinflammatory Syndrome 1
OMIM:256040
Atypical Werner Syndrome
ORPHA:79474
X-Linked Lymphoproliferative Disease
ORPHA:2442
Lysosomal Acid Lipase Deficiency
ORPHA:275761
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
OMIM:235400
Glycogen Storage Disease Iii
OMIM:232400
Classical-Like Ehlers-Danlos Syndrome Type 2
ORPHA:536532
Cataract 5, Multiple Types
OMIM:116800
Carney Complex, Type 1
OMIM:160980
Lipodystrophy, Familial Partial, Type 2
OMIM:151660
Fanconi-Bickel Syndrome
ORPHA:2088
Niemann-Pick Disease Type B
ORPHA:77293
Xp21 Deletion Syndrome
ORPHA:261476
Diarrhea 10, Protein-Losing Enteropathy Type
OMIM:618183
Mandibuloacral Dysplasia With Type A Lipodystrophy
ORPHA:90153
Vici Syndrome
OMIM:242840
Mandibuloacral Dysplasia With Type B Lipodystrophy
OMIM:608612
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
ORPHA:369837
Muenke Syndrome
ORPHA:53271
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
ORPHA:98795
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
ORPHA:79259
Cholestasis-Lymphedema Syndrome
ORPHA:1414
Schimke Immuno-Osseous Dysplasia
ORPHA:1830
Methanol Poisoning
ORPHA:31825
Hypohidrotic Ectodermal Dysplasia
ORPHA:238468
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
ORPHA:369
Syndromic Diarrhea
ORPHA:84064
Mandibuloacral Dysplasia Progeroid Syndrome
OMIM:619127
Angelman Syndrome Due To A Point Mutation
ORPHA:411511
Mandibuloacral Dysplasia With Type B Lipodystrophy
ORPHA:90154
Duane Retraction Syndrome
ORPHA:233
Nephrotic Syndrome, Type 1
OMIM:256300
Lipodystrophy, Congenital Generalized, Type 1
OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
OMIM:269700
Wiedemann-Rautenstrauch Syndrome
OMIM:264090
Cystinosis, Nephropathic
OMIM:219800
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
ORPHA:98794
Koolen-De Vries Syndrome
ORPHA:96169
Wiedemann-Rautenstrauch Syndrome
ORPHA:3455
Congenital Analbuminemia
ORPHA:86816
19P13.12 Microdeletion Syndrome
ORPHA:254346
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
ORPHA:2089
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
ORPHA:163746
Mandibuloacral Dysplasia With Type A Lipodystrophy
OMIM:248370
Familial Multiple Lipomatosis
ORPHA:199276
Glycogen Storage Disease Ib
OMIM:232220
Sim1-Related Prader-Willi-Like Syndrome
ORPHA:398079
Neutral Lipid Storage Myopathy
ORPHA:98908
Fabry Disease
ORPHA:324
Combined Deficiency Of Factor V And Factor Viii
ORPHA:35909
Prader-Willi Syndrome
OMIM:176270
Magel2-Related Prader-Willi-Like Syndrome
ORPHA:398069
Carnitine Palmitoyltransferase Ii Deficiency
ORPHA:157
Glycogen Storage Disease Ia
OMIM:232200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
ORPHA:228308
Primary Lipodystrophy
ORPHA:90970
Acrodysostosis With Multiple Hormone Resistance
ORPHA:280651
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
ORPHA:98754
Prader-Willi Syndrome Due To Translocation
ORPHA:177907
Autosomal Recessive Faciodigitogenital Syndrome
ORPHA:1974
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
ORPHA:177901
Woodhouse-Sakati Syndrome
OMIM:241080
Smith-Lemli-Opitz Syndrome
ORPHA:818
Alström Syndrome
ORPHA:64
Parenteral Nutrition-Associated Cholestasis
ORPHA:567983
Prader-Willi-Like Syndrome
ORPHA:398073
Carney Complex
ORPHA:1359
Aapoaiv Amyloidosis
ORPHA:439232
Prader-Willi Syndrome
ORPHA:739
Menkes Disease
ORPHA:565
Triglyceride Deposit Cardiomyovasculopathy
ORPHA:565612
Aromatase Deficiency
ORPHA:91
Turner Syndrome
ORPHA:881
Mosaic Monosomy X
ORPHA:99228
Monosomy X
ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
ORPHA:99413
Glycogen Storage Disease Ic
OMIM:232240
Woodhouse-Sakati Syndrome
ORPHA:3464
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
ORPHA:567546
Homozygous Familial Hypercholesterolemia
ORPHA:391665
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
ORPHA:293987

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 Sdc2

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 Sdc2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
N-terminal syndecan-2 domain selectively enhances 6-O heparan sulfate chains sulfation and promotes VEGFA165-dependent neovascularization. Nature communications (April 2019) Sdc2tm1a(KOMP)Wtsi PMC6450910

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MGI Allele Allele Type Produced
Sdc2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Sdc2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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