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

Eye Morphology

Images Slit Lamp

103 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Histopathology

Images

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

Electrocardiogram (ECG)

Waveform Image

1 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
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
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
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612964
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Azoospermia, ... OMIM:614837
Satoyoshi Syndrome
Genu varum, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Abnormality of the... ORPHA:3130
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Diethylstilbestrol Syndrome
Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Premature Ovarian Failure 6
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612310
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619203
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Azoospermia, Abnormal rib morphology, Bicornuate uteru... OMIM:601076
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Abnormal heart morphology, Short sternum OMIM:184800
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619665
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Gonadal calcification, Ambiguous genitalia, Fem... ORPHA:206484
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Hypoplasia of the ovary, Hypoplasia of... OMIM:614841
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Testicular Agenesis
Absent testis, Micropenis, Increased circulating gonadotropin level, Absent external genitalia, A... ORPHA:325124
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism, A... ORPHA:2229
Satoyoshi Syndrome
Brachydactyly, Short metacarpal, Osteolytic defects of the phalanges of the hand, Genu valgum, Hy... OMIM:600705
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Ovotestis, Hypoplasia of the vagina, Micropenis, Azoospermia... OMIM:278850
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Seckel Syndrome 7
Hypoplasia of the uterus, Clinodactyly, Hip dysplasia OMIM:614851
Rudiger Syndrome
Ureterovesical stenosis, Micropenis, Short digit, Ovarian cyst, Bicornuate uterus OMIM:268650
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Streak ovary, Reduced antral follicle c... OMIM:611548
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Micropenis, Cryptorchidism, Abnormality of the ovary, True herma... ORPHA:199310
Perrault Syndrome 4
Bicornuate uterus, Premature ovarian insufficiency, Increased circulating gonadotropin level, Hyp... OMIM:615300
Kennerknecht Syndrome
Toe syndactyly, Toe clinodactyly, Hypoplasia of the uterus, Agonadism, Acetabular dysplasia OMIM:600908
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Premature Ovarian Failure 19
Premature ovarian insufficiency OMIM:619245
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Müllerian Aplasia And Hyperandrogenism
Brachydactyly, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
46,Xy Sex Reversal 11
Aplasia of the uterus, Elevated circulating luteinizing hormone level, Abnormal internal genitali... OMIM:273250
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Aplasia of the uterus, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger s... ORPHA:3320
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Micropenis, Cryptorchidism, Azoospermia, Non-... ORPHA:432
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Delayed epiphyseal ossification, Increased circulating gonadotropin ... ORPHA:785
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Micropenis, Cryptorchi... ORPHA:755
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Syndactyly OMIM:613576
Amed Syndrome, Digenic
Hypoplasia of the uterus, Long thumb OMIM:619151
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary retention, Polycystic ovaries, Dysuria, Abnormality of the ovary, Urinary incontinence, A... ORPHA:2795
46,Xy Sex Reversal 4
Hypoplastic labia majora, Hydronephrosis, Gonadal dysgenesis, Ureteropelvic junction obstruction,... OMIM:154230
Granulomatous Slack Skin
Abnormality of the lymph nodes, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Renal hypoplasia, Atrial s... OMIM:601186
Fraser-Like Syndrome
Overlapping toe, Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst OMIM:229230
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Attrv30M Amyloidosis
Cardiomegaly, Abnormal renal physiology, Nephropathy, Cardiomyopathy ORPHA:85447
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Ovarian neoplasm, Elevated circulating follicle s... OMIM:615723
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased fibular diameter, Hydronephrosis, Micropenis, Hypertrophic cardiomyopathy, ... OMIM:616897
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Cantu Syndrome
Congenital hypertrophy of left ventricle, Coxa valga, Broad first metatarsal, Short hallux, Broad... OMIM:239850
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Ambiguous genitalia, female, Long penis, Precocious puberty in males, C... OMIM:202010
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Cutaneous syndactyly, Ventricular septal defect, Cardi... OMIM:601005
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Polycystic ovaries, Micropenis, Elevated circulating luteinizing hormon... ORPHA:90796
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of th... OMIM:158330
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... OMIM:252920
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Premature Ovarian Failure 10
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:612885
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Hypoplasia of the vagina, Cryptorchidism, Bifid scrotum,... OMIM:119500
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Nephrotic syndrome, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:269920
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypoplastic ischia, Short ribs, Squared iliac bones, Metaphyseal cupping, Short long bone, Iliac ... OMIM:613320
Ovarian Fibrothecoma
Abnormality of the endometrium, Ovarian fibroma, Gonadal calcification, Abnormality of the ovary ORPHA:314478
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ovotestis, Chordee, Histiocytoid cardiomyopathy, Micropenis, Atrial septal defe... OMIM:309801
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Azoospermia, Splenomegaly, Hepatomegaly, Testicular atrophy, Cardi... OMIM:235200
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Epiphyseal stippling, Splenomegaly... OMIM:256550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Micropenis, Elevated circulating luteinizing hormone... ORPHA:90797
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Aortic valve stenosis, Abnormal atrioventricular valve morphology, Mac... ORPHA:324410
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Bive... ORPHA:860
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Overlapping fingers, Adducted thumb, Ventricular septal defect, Hypoplasia of t... OMIM:617022
Mulibrey Nanism
Pericardial constriction, Thickened cortex of long bones, Hepatomegaly, Cardiomegaly, Myocardial ... OMIM:253250
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Micropenis, Cryptorchidism, Dysplastic tricuspid valv... OMIM:618280
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Epididymal cyst, Nephrolithiasis, Decreased nu... OMIM:137920
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... ORPHA:99429
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the fallopian tube, Elevated circulating... OMIM:241080
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Coffin-Siris Syndrome 9
Clinodactyly, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Sh... OMIM:615866
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia, Micropenis OMIM:602361
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis OMIM:212140
Bardet-Biedl Syndrome 1
Brachydactyly, Foot polydactyly, Micropenis, Abnormality of the ovary, Vaginal atresia, Decreased... OMIM:209900
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Cantú Syndrome
Coxa valga, Finger syndactyly, Abnormal heart valve morphology, Short hallux, Hypertrophic cardio... ORPHA:1517
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Ventricular septal defect, Hallux valgus, Tibial torsion, Cardiomegaly, Decreased r... OMIM:602782
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Increased circulating gonadotropin level, Hypoplasia of the uterus OMIM:110100
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Refsum Disease, Classic
Cardiomegaly, Short fourth metatarsal, Abnormal renal physiology, Cardiomyopathy OMIM:266500
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Abnormal spermatogenesis, Hypoplasia of the fallopian tube,... ORPHA:3464
Lumbar Syndrome
Hypoplastic labia majora, Micropenis, Cryptorchidism, Bladder exstrophy, Hypospadias, Bifid uteru... ORPHA:83628
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Nephrocalcinosis, Nephrotic syndrome, Septate vagina, Hematuria, Proteinur... OMIM:146255
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Septate vagina, Hydronephrosis, Uterus didelphy... ORPHA:2237
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Missing ribs, Short ribs, Thin ribs, Hydronephrosis, Aplasia of the vagina... OMIM:271520
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Ventricular septal defect, Tibial ... OMIM:274000
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Clubbing, Patent foramen ovale, Atrial septal defect, Muscular ventricu... ORPHA:439
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Ectopic kidney, Horseshoe kidney, Hypoplasia of... ORPHA:3109
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy OMIM:619051
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Clinodactyly, Cryptorchidism, Elevated circulating luteinizing hormone... ORPHA:95699
Symptomatic Form Of Hemochromatosis Type 1
Hypogonadotropic hypogonadism, Abnormality of metacarpophalangeal joint, Hepatomegaly, Splenomega... ORPHA:465508
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Mucolipidosis Ii Alpha/Beta
Carpal bone hypoplasia, Mucopolysacchariduria, Cardiomegaly, Flared iliac wing, Split hand, Hyper... OMIM:252500
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Renal tubular acidosis, Hepatomegaly OMIM:255120
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology, Broad ribs, Hypoplastic pelvis OMIM:114620
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Shoulder dislocation, Broad distal phalanges of all fingers, Left ventricular hypertrophy, Patent... OMIM:245600
Oeis Complex
Hydroureter, Rectovaginal fistula, Micropenis, 11 pairs of ribs, Hydronephrosis, Congenital hip d... OMIM:258040
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis ORPHA:722
Lethal Acantholytic Erosive Disorder
Cardiomegaly, 4-5 finger syndactyly, Clinodactyly of the 5th finger, Cardiomyopathy, Camptodactyl... ORPHA:158687
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Dicarboxylic aciduria, Elevated urinary 3-hydroxybutyric acid ORPHA:42
Aorta Coarctation
Cardiomegaly, Tetralogy of Fallot, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Microphallus, Thrombocytopenia, Hypospadias OMIM:617053
Mogs-Cdg
Hepatosplenomegaly, Atrial septal defect, Overlapping fingers, Hydrocele testis, Hepatomegaly, Ex... ORPHA:79330
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Precocious puberty in females, Micrope... ORPHA:90793
Phocomelia, Schinzel Type
Bowing of the long bones, Aplasia of the uterus, Hand oligodactyly, Cryptorchidism, Aplasia/Hypop... ORPHA:2879
Beck-Fahrner Syndrome
Cardiomegaly, Hip dysplasia, Ventricular septal defect OMIM:618798
Peters-Plus Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Hydronephrosis, Ventricular septal defect, Short ... OMIM:261540
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Long toe, Ureteral duplication, Hydronephrosis, Tapered ... OMIM:608836
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Urinary incontinence, Cardiomyopathy OMIM:105210
Developmental And Epileptic Encephalopathy 95
Brachydactyly, Short 4th metacarpal, Clinodactyly of the 5th finger, Cryptorchidism, Short digit,... OMIM:618143
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Polycystic ovaries, Elevated circulating luteinizing hormone level, Ele... ORPHA:572333
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced ... OMIM:201475
Sickle Cell Anemia
Cholelithiasis, Hematuria, Splenomegaly, Hepatomegaly, Renal insufficiency, Cardiomegaly OMIM:603903
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Hsd10 Disease, Infantile Type
Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyopathy ORPHA:391428
Yunis-Varon Syndrome
Abnormal pelvis bone morphology, Cryptorchidism, Tapered finger, Ventricular septal defect, Short... ORPHA:3472
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Craniofaciofrontodigital Syndrome
Finger joint hypermobility, Abnormal heart valve morphology, Atrial septal defect, Ventricular se... ORPHA:363705
Schinzel-Giedion Midface Retraction Syndrome
Hydronephrosis, Splenopancreatic fusion, Short 1st metacarpal, Hypoplastic labia majora, Short st... OMIM:269150
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Anteriorly displaced genitalia, Aplasia/Hypoplasia involving the carpal bones, Ap... OMIM:276820
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin ribs, Thin metatarsal cortices, Arachnodactyly, Slender long bone, Cardiomegaly, Thin metaca... ORPHA:2463
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Renal cyst, Unicornuate uterus, Short palm, Lon... OMIM:614527
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Cryptorchidism, Pancrea... OMIM:130650
Peters Plus Syndrome
Brachydactyly, Toe syndactyly, Ureteral duplication, Cryptorchidism, Clinodactyly of the 5th fing... ORPHA:709
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Female external genitalia in individua... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Female external genitalia in individua... ORPHA:289548
Renal Dysplasia-Limb Defects Syndrome
Phocomelia, Short sternum, Short ribs, Short metacarpal, Thin ribs, Renal hypoplasia, Hypoplasia ... OMIM:266910
Pseudo-Torch Syndrome 3
Cardiomegaly, Acute kidney injury, Proteinuria OMIM:618886
Pearson Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Hypoplastic spleen, Abnormality of the liver, He... ORPHA:699
Townes-Brocks Syndrome 1
Cryptorchidism, 2-4 finger syndactyly, Multicystic kidney dysplasia, Ventricular septal defect, B... OMIM:107480
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cystic renal dysplasia, Tubulointerstitial nephritis, Hepatomegal... ORPHA:228308
Fucosidosis
Coxa valga, Oligosacchariduria, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Hepatomegaly, Labial hypertrophy, Precocious puberty, Ventricular septal defect, ... ORPHA:96191
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Agammaglobulinemia, X-Linked
T lymphocytopenia, Neutropenia, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Lymph node h... OMIM:300755
Fucosidosis
Cardiomegaly, Hepatomegaly, Mucopolysacchariduria ORPHA:349
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Left atrial e... ORPHA:57777
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Abnormal mitral valve morphology, Urinary glycosaminoglycan excre... ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Pineal cyst, Patent foramen ovale, Cryptorchidism, Atrial septal ... OMIM:300967
Sandhoff Disease
Cardiomegaly, Urinary incontinence, Hepatosplenomegaly, Hepatomegaly OMIM:268800
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Enlarged labia minora, Phocomelia, Short sternum, Short ribs, S... ORPHA:3404
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy OMIM:619259
Exstrophy-Epispadias Complex
Abnormality of the ureter, Horseshoe kidney, Bifid penis, Cryptorchidism, Renal hypoplasia, Bladd... ORPHA:322
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:608013
Truncus Arteriosus
Truncus arteriosus, Aplasia/hypoplasia involving bones of the extremities, Tetralogy of Fallot, A... ORPHA:3384
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hydronephrosis, Hepatomegaly, Ventricular septal defect, Cardiomegaly OMIM:614921
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Limb-Mammary Syndrome
Toe syndactyly, Aplasia of the uterus, 3-4 finger cutaneous syndactyly, Absent nipple, Clinodacty... ORPHA:69085
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hyp... ORPHA:308552
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Hypogonadotropic hypogonadism, Precocious puberty in females, Premature pu... ORPHA:90794
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Clinodactyly of the 5th finger, Broad hallux, A... ORPHA:457284
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Expanded metacarpals with widened medullary cavities, Expand... OMIM:182250
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:137675
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Parotitis, Hypoplastic scapulae, Splenomegaly, Hepatomegaly, Long fingers, Flexion ... OMIM:256040
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Short toe, Premature ovarian insufficiency, Genu valgum, Hip dysplasia, H... ORPHA:99413
Turner Syndrome
Hypoplastic left heart, Short toe, Premature ovarian insufficiency, Genu valgum, Hip dysplasia, H... ORPHA:881
Mosaic Monosomy X
Hypoplastic left heart, Short toe, Premature ovarian insufficiency, Genu valgum, Hip dysplasia, H... ORPHA:99228
Monosomy X
Hypoplastic left heart, Short toe, Premature ovarian insufficiency, Genu valgum, Hip dysplasia, H... ORPHA:99226
Craniorachischisis
Bifid sternum ORPHA:63260
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Unilateral brachydactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morpho... ORPHA:1521
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Adrenal gland dysgenesis, Upper limb undergrowth, Hydrone... OMIM:236680
Coffin-Lowry Syndrome
Narrow iliac wing, Coxa valga, Short metacarpal, Tapered finger, Uterine prolapse, Hyperextensibi... OMIM:303600
Williams Syndrome
Proteinuria, Cryptorchidism, Clinodactyly of the 5th finger, Ventricular septal defect, Hallux va... ORPHA:904
Beckwith-Wiedemann Syndrome
Enlarged kidney, Multiple renal cysts, Pseudohypoparathyroidism, Nephrolithiasis, Ureteral duplic... ORPHA:116
Bohring-Opitz Syndrome
Cholelithiasis, Urinary retention, Metacarpophalangeal joint contracture, Annular pancreas, Cardi... ORPHA:97297
Okamoto Syndrome
Abnormal left ventricle morphology, Aortic valve stenosis, Unilateral renal hypoplasia, Hydroneph... ORPHA:2729
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Trunc... ORPHA:980
Congenital Tracheomalacia
Tetralogy of Fallot, Atrial septal defect, Partial anomalous pulmonary venous return, Abnormal he... ORPHA:95430
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, ... ORPHA:1677
Coffin-Siris Syndrome 1
Cryptorchidism, Sandal gap, Aplasia/Hypoplasia of the distal phalanges of the toes, Clinodactyly ... OMIM:135900
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Arachnodactyly, Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Wolf-Hirschhorn Syndrome
Pseudoepiphyses of the metacarpals, Aplasia of the uterus, Preaxial foot polydactyly, Cryptorchid... OMIM:194190
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy OMIM:618278
Neu-Laxova Syndrome 1
Clinodactyly, Toe syndactyly, Calcaneovalgus deformity, Finger syndactyly, Patent foramen ovale, ... OMIM:256520
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Micropenis, Cryptorchidism, Absent penis, Abnormal scrotal rugation, Ambig... ORPHA:284339
Congenital Total Pulmonary Venous Return Anomaly
Atrial septal defect, Supracardiac total anomalous pulmonary venous connection, Mixed total anoma... ORPHA:99125
Aicardi-Goutières Syndrome
Micropenis, Cardiomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly ORPHA:51
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hyp... ORPHA:365
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Clinodactyly of the 5th finger, Hypoplastic iliac wing, Ventricular septal defect... OMIM:180849
Ehlers-Danlos Syndrome, Vascular Type
Finger joint hypermobility, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Osteolytic ... OMIM:130050
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Myocardial calcification, Abnormal calcification of ... ORPHA:51608
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Restrictive cardi... ORPHA:75565
Pallister-Killian Syndrome
Cryptorchidism, 11 pairs of ribs, Clinodactyly of the 5th finger, Ventricular septal defect, Shor... OMIM:601803
Loeys-Dietz Syndrome
Arachnodactyly, Camptodactyly of finger, Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Bladder diverticulum, Abnormal heart valve morphology, Cryptorchidism, Congenital hip dislocation... 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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