Gene Summary

Name:
ADAMTS-like 3
Synonyms:
9230119C12Rik,  punctin-2

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
small uterus Adamtsl3em1(IMPC)Tcp HOM Late adult 0.00
enlarged urinary bladder Adamtsl3em1(IMPC)Tcp HOM Early adult 0.00
enlarged heart Adamtsl3em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Adamtsl3em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Adamtsl3em1(IMPC)Tcp HOM Late adult 0.00
abnormal ovary morphology Adamtsl3em1(IMPC)Tcp HOM Late adult 0.00
small spleen Adamtsl3em1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Adamtsl3em1(IMPC)Tcp HOM Late adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

158 Images

Eye Morphology

Images Ophthalmoscopy

103 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

103 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Histopathology

Images

3 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

Human diseases caused by Adamtsl3 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 Adamtsl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Ethanolaminosis
Cardiomegaly OMIM:227150
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Satoyoshi Syndrome
Abnormality of femur morphology, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormal hip ... ORPHA:3130
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... OMIM:614837
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Abnormal rib morphology, ... OMIM:601076
Gonadoblastoma
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... ORPHA:206484
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Short sternum, Abnormal heart morphology OMIM:184800
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... OMIM:612964
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Aplasia of the phalanges of the 3rd toe, Dila... ORPHA:2229
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:612310
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:619203
Acromesomelic Dysplasia 3
Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Hypoplasia of the uterus, S... OMIM:609441
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:619665
Satoyoshi Syndrome
Hypoplasia of the uterus, Brachydactyly, Osteolytic defects of the phalanges of the hand, Genu va... OMIM:600705
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Seckel Syndrome 7
Hypoplasia of the uterus, Hip dysplasia, Clinodactyly, Abnormal carpal morphology OMIM:614851
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst, Ureterovesical stenosis, Short digit OMIM:268650
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Kennerknecht syndrome
Hypoplasia of the uterus, Toe clinodactyly, Agonadism, Acetabular dysplasia, Toe syndactyly OMIM:600908
Müllerian Aplasia And Hyperandrogenism
Brachydactyly, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... OMIM:273250
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... ORPHA:3320
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Hypoplasia of the uterus, Breast hypoplasia, Increased circulati... ORPHA:785
Amed Syndrome, Digenic
Hypoplasia of the uterus, Long thumb OMIM:619151
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Abnormality of the urethra, Urinary retention, Polycystic ovaries, Abnormality of the ov... ORPHA:2795
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly OMIM:613576
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... ORPHA:432
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... OMIM:615300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Fraser-Like Syndrome
Ovarian cyst, Overlapping toe, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormality of the lymph nodes ORPHA:33111
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Pulmonic stenosis, Single vent... OMIM:601186
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Ovarian Fibroma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:617713
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology ORPHA:85447
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Cardiomyopathy, Familial Hypertrophic 27
Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, Endocardial fibroelastosis... OMIM:618052
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micropenis, Short ribs, Hypospadias, Short femur, Flared metaphysis, ... OMIM:616897
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Broad first metatarsal, Erlenmey... OMIM:239850
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ... OMIM:601005
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... OMIM:202010
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... OMIM:618652
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Ambiguous geni... ORPHA:90796
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis, Aplasia/Hypoplasia of th... OMIM:158330
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Ovarian Fibrothecoma
Ovarian fibroma, Gonadal calcification, Abnormality of the ovary, Abnormal endometrium morphology ORPHA:314478
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal... OMIM:252920
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Nephrotic syndrome, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:269920
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Short ribs, Iliac crest serration, Hypoplastic ischia, Short long bone, Card... OMIM:613320
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cutaneous finge... OMIM:119500
Neuraminidase Deficiency
Hepatomegaly, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Increased urinary O... OMIM:256550
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Azoospermia, Cardi... OMIM:235200
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... OMIM:266810
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Hepatomegaly, Lymphopenia, Abnormally low T cell receptor ... ORPHA:276
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... ORPHA:90797
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal thumb morphology, Abnormal atrioventricula... ORPHA:324410
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Unilateral renal agenesis, Elevated circulating luteinizing hormone lev... OMIM:618419
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Complete Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:99429
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Thickened cortex of long bones, Cardiomegaly, Pericardial cons... OMIM:253250
Lethal Congenital Contracture Syndrome 10
Adducted thumb, Hypoplasia of the thymus, Overlapping fingers, Ventricular septal defect, Broad r... OMIM:617022
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Unilateral re... OMIM:137920
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Coffin-Siris Syndrome 9
Short distal phalanx of finger, Hypoplasia of the uterus, Decreased response to growth hormone st... OMIM:615866
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia, Micropenis OMIM:602361
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Atrial septal defect, Micropenis, Hypospadias, Ovotestis, Vent... OMIM:309801
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... OMIM:613179
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Pancreatic hypoplasia, Ventricular septal defect, R... OMIM:602782
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Cantú Syndrome
Short distal phalanx of finger, Finger syndactyly, Broad hallux phalanx, Short hallux, Broad ribs... ORPHA:1517
Refsum Disease, Classic
Short fourth metatarsal, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology OMIM:266500
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Bardet-Biedl Syndrome 1
Micropenis, Postaxial polydactyly, Left ventricular hypertrophy, Brachydactyly, Syndactyly, Posta... OMIM:209900
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Patent urachus, Unilateral crypt... OMIM:618280
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Bladder exstrophy, Ambiguous genitalia, Cry... ORPHA:83628
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Chronic kidney disease, Nephrotic syndrome, Uterus didelphys, Proximal renal ... OMIM:146255
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Aplasia of the u... ORPHA:2237
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Urethral atresia, Absent external genitalia, Thin ribs, Short ribs, Missing ribs, Hyd... OMIM:271520
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal external genitalia, Femoral bowing, Radioulnar synostosis, Ambiguous genitalia, Bowing o... ORPHA:95699
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... OMIM:241080
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... OMIM:228300
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Aplasia of... ORPHA:3109
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... OMIM:274000
Hypoplasminogenemia
Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis ORPHA:722
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Abnormal metacarpo... ORPHA:465508
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Cardiomegaly OMIM:255120
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Micropenis, Stre... ORPHA:3464
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Dislocated radial head, Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy... OMIM:245600
Craniofaciofrontodigital Syndrome
Hypoplastic pelvis, Broad ribs, Cardiomegaly, Abnormal heart morphology OMIM:114620
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... OMIM:258040
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Mirage Syndrome
Lymphopenia, Hypospadias, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia, Microphallus OMIM:617053
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyl... ORPHA:158687
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Cardiomegaly ORPHA:42
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Precocious puberty in females, Blind vagina, Adrenocort... ORPHA:90793
Beck-Fahrner Syndrome
Ventricular septal defect, Hip dysplasia, Cardiomegaly OMIM:618798
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hypoplasia of penis, Hand oligodactyly, Hypopla... ORPHA:2879
Mogs-Cdg
Hydrocele testis, Hepatomegaly, External genital hypoplasia, Atrial septal defect, Left ventricul... ORPHA:79330
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Congenital hip dislocation, Enlarged kidney, Ventric... OMIM:306955
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Long-chain dicarboxylic aciduria, Hepatomegaly, Ureteral duplication, Tapered finger... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Developmental And Epileptic Encephalopathy 95
Short distal phalanx of finger, Clinodactyly of the 5th finger, Hepatomegaly, Short fourth metata... OMIM:618143
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hypertrophic cardiomyopathy,... OMIM:201475
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Crossed fused renal ectopia OMIM:617466
Peters-Plus Syndrome
Clitoral hypoplasia, Square pelvis bone, Ventricular septal defect, Hypoplastic labia majora, Hyp... OMIM:261540
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly, Urinary incontinence OMIM:105210
Leigh Syndrome With Nephrotic Syndrome
Nephrotic syndrome, Renal tubular acidosis, Renal cyst, Tubulointerstitial nephritis, Cardiomegal... ORPHA:255249
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Flared iliac wing, Splenomegaly, Metaphyseal widening, Hip dysplasia, Bullet-shaped... OMIM:252500
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Absent thumb, Tapered finger, Ventricular septal defect... ORPHA:3472
Meckel Syndrome 14
Postaxial polydactyly, Single ventricle, Syndactyly, Postaxial hand polydactyly, Ambiguous genita... OMIM:619879
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly ORPHA:391428
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Short 1st metacarpal, Splenopancreatic fusion, Broad ribs, Hypoplastic labia major... OMIM:269150
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Finger joint hypermobility, V... ORPHA:363705
Chromosome 17Q12 Deletion Syndrome
Long toe, Ovarian cyst, Unilateral renal agenesis, Multicystic kidney dysplasia, Upper limb under... OMIM:614527
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Cardiomegaly OMIM:603903
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Arachnodactyly, Thin metatarsal cortices, Slender long bone, Thin metacarpal cortices,... ORPHA:2463
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypoplasia of the radius, Femoral bowing, Broad ribs, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Renal cortical cysts, Pancreatic hyperplasia, Enlarged kidney, Ves... OMIM:130650
Peters Plus Syndrome
Abnormal cardiac septum morphology, Short toe, Hypoplasia of the uterus, Clinodactyly of the 5th ... ORPHA:709
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... ORPHA:289548
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating lute... ORPHA:572333
Pearson Syndrome
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Lacticaciduria, Splenomegaly, Anemi... ORPHA:699
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Short sternum, Short metacarpal, Thin ribs, Short ribs, Hypoplasia of the ra... OMIM:266910
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Enlarged polycystic ovaries, Hemorrhagic ... ORPHA:64739
Townes-Brocks Syndrome 1
Bifid uterus, Ventricular septal defect, Rectoperineal fistula, Tetralogy of Fallot, 3-4 finger s... OMIM:107480
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubu... ORPHA:228308
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Hepatomegaly, Ventricular septal defect, Labial hypertrophy, Cryptorchidism, ... ORPHA:96191
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Fucosidosis
Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Splenomegaly, Coxa valga, Cardiomegaly OMIM:230000
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... ORPHA:57777
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Hepatocellular carcinoma, B lymphocytopenia, T lymphocytopenia, Neutropeni... OMIM:300755
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
3-Methylglutaconic aciduria, Cardiomyopathy, Cardiomegaly OMIM:619259
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine,... ORPHA:581
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Short metacarpal, Abnormal external genitalia, Sho... ORPHA:3404
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Urinary incontinence OMIM:268800
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Synostosis of the proximal phalanx of the thumb wi... OMIM:300967
Exstrophy-Epispadias Complex
Abnormal heart morphology, Cystocele, Bifid scrotum, Bifid uterus, Abnormality of the ureter, Abs... ORPHA:322
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Card... ORPHA:308552
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis, Cardiomegaly OMIM:614921
Limb-Mammary Syndrome
Absent nipple, Clinodactyly of the 5th finger, Bilateral breast hypoplasia, 3-4 finger cutaneous ... ORPHA:69085
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Hypoplasia of the thymus,... ORPHA:3384
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Ogden Syndrome
Hydrocele testis, Global glomerulosclerosis, Bicuspid aortic valve, Secundum atrial septal defect... OMIM:300855
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Renal cyst, Polycystic ovaries, Cardiomegaly ORPHA:137675
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Postaxial polydactyly, Unilateral renal agenesis, Broad hallux, A... ORPHA:457284
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly, Renal artery stenosis OMIM:208000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Splayed toes, Atrial septal defect, Hypoplastic left heart, Short sternum,... ORPHA:99413
Turner Syndrome
Bicuspid aortic valve, Splayed toes, Atrial septal defect, Hypoplastic left heart, Short sternum,... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Splayed toes, Atrial septal defect, Hypoplastic left heart, Short sternum,... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Splayed toes, Atrial septal defect, Hypoplastic left heart, Short sternum,... ORPHA:99226
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Uterine prolapse, Hyperextensibility of the finger joints, Tapered ... OMIM:303600
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Splenomegaly, Camptodactyly of finger, Long fingers, Finger swelling, Hypoplastic s... OMIM:256040
Craniorachischisis
Bifid sternum ORPHA:63260
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Premature f... ORPHA:90794
Williams Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Down-sloping shoulders, Radioulnar synostosis... ORPHA:904
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Unilateral brachydactyly, Bifid uterus, Syndactyly, Abnormal reproductive s... ORPHA:1521
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus, Proximal tibial hypoplasia, Upper limb und... OMIM:236680
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, Splenomegaly, Congen... ORPHA:116
Glycogen Storage Disease Ii
Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Bohring-Opitz Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas, Metacarpophalangeal joint c... ORPHA:97297
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Okamoto Syndrome
Abnormal heart morphology, Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial... ORPHA:2729
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Coffin-Siris Syndrome 1
Short sternum, Prominent fingertip pads, Ventricular septal defect, Clitoral hypertrophy, Sandal ... OMIM:135900
Wolf-Hirschhorn Syndrome
Rib fusion, Precocious puberty, Atrial septal defect, Split hand, Hypospadias, Short hallux, Shor... OMIM:194190
Singleton-Merten Syndrome 1
Aortic valve calcification, Expanded metacarpals with widened medullary cavities, Aortic valve st... OMIM:182250
Fanconi Anemia, Complementation Group L
Absent thumb, Micropenis, Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Abs... OMIM:614083
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Arachnodactyly, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Neu-Laxova Syndrome 1
Bifid uterus, Camptodactyly, Ventricular septal defect, Radial deviation of finger, Patent forame... OMIM:256520
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:618278
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... ORPHA:284339
Liver Disease, Severe Congenital
Hydrocele testis, Dilatation of the ventricular cavity, Hepatomegaly, Aminoaciduria, Atrial septa... OMIM:619991
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Card... ORPHA:365
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis ORPHA:51
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... ORPHA:99125
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Uterine rupture, Cystocele, Finger joint hypermobility, Foot acroosteolysis, Me... OMIM:130050
Generalized Arterial Calcification Of Infancy
Medullary nephrocalcinosis, Abnormal hip joint morphology, Abnormal calcification of the carpal b... ORPHA:51608
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... ORPHA:75565
Pallister-Killian Syndrome
Labial hypoplasia, Congenital hip dislocation, 11 pairs of ribs, Ventricular septal defect, Aplas... OMIM:601803
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Uterine prolapse, Bladder diverticulum, Cystocele, Uterine rupture, Hypospadias, Congenital hip d... ORPHA:286
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649

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 Adamtsl3

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 Adamtsl3.

No publications found that use IMPC mice or data for Adamtsl3.

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MGI Allele Allele Type Produced
Adamtsl3em1(IMPC)Tcp Exon Deletion Mice, Tissue
Adamtsl3tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adamtsl3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Adamtsl3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Adamtsl3tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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