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Gene: Adamts12 MGI:2146046

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Gene Summary

Name:
ADAM metallopeptidase with thrombospondin type 1 motif 12
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
cataract Adamts12em1(IMPC)Mbp HOM   Early adult 3.36×10-06
abnormal testis morphology Adamts12em1(IMPC)Mbp HOM Early adult 0.00
enlarged testis Adamts12em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Adamts12em1(IMPC)Mbp HOM   Early adult 3.00×10-06

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Adamts12 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 Adamts12 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligozoospermia ORPHA:3000
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Spastic Paraparesis And Deafness
Hypogonadism, Cataract OMIM:312910
Cataract 42
Cataract, Developmental cataract OMIM:115900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Partington Syndrome
Macroorchidism ORPHA:94083
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis OMIM:614840
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Trichomegaly
Cataract OMIM:190330
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Nathalie Syndrome
Cataract ORPHA:2663
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Morm Syndrome
Micropenis, Cataract, Retinal atrophy ORPHA:75858
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Hypogonadism-Cataract Syndrome
Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cataract, Cryptorchidism, Retinal coloboma OMIM:601794
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism ORPHA:2489
Coats Disease
Cataract, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cataract ORPHA:1875
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad... ORPHA:8
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism, Juvenile cataract OMIM:300055
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Cataract, Lens subluxation, Retinal detachment OMIM:614292
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Galactosemia Ii
Cataract OMIM:230200
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Retinal pigment epithelial atrophy, Cata... OMIM:143200
Fragile X Syndrome
Macroorchidism ORPHA:908
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Galactosemia Iv
Cataract OMIM:618881
Stickler Syndrome Type 2
Cataract, Retinal detachment, Corneal opacity ORPHA:90654
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Retinitis Pigmentosa 84
Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy OMIM:618220
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:613731
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Cryptorchidism ORPHA:1069
Cataract 47
Cataract, Microcornea OMIM:612018
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Cryptorchidism, Displacement of the urethral meatus, Am... ORPHA:893
Polyembryoma
Isosexual precocious puberty, Macroorchidism ORPHA:180229
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Hypopituitarism, Decreased response to gr... ORPHA:91349
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Macroorchidism, Hypospadias OMIM:618874
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Posterior embryotoxon, Retinal detachment, Corneal opacity, Iris coloboma ORPHA:1473
Microphthalmia, Isolated 5
Cataract, Optic disc drusen, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal ... OMIM:611040
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... ORPHA:90790
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Decreased testicular size, Abnormality of retinal pigmentation, Cryptorchidism, Polycys... ORPHA:3085
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Cone-Rod Dystrophy 16
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:614500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cryptorchidism, Cataract OMIM:613730
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Macular coloboma OMIM:613835
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Laurence-Moon Syndrome
Cataract, Cryptorchidism, Displacement of the urethral meatus, Hypoplasia of penis, Iris coloboma ORPHA:2377
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Mccune-Albright Syndrome
Precocious puberty, Increased circulating prolactin concentration, Goiter, Ovarian cyst, Hyperpla... ORPHA:562
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Stickler Syndrome, Type V
Cataract, Retinal detachment OMIM:614284
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Trisomy 20P
Macroorchidism, Hypospadias, Cryptorchidism ORPHA:261318
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Proximal Myotonic Myopathy
Cataract ORPHA:606
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro... ORPHA:325124
Hereditary Leiomyomatosis And Renal Cell Cancer
Vaginal neoplasm, Cataract, Uterine leiomyosarcoma, Uterine leiomyoma ORPHA:523
Hereditary Bullous Dystrophy, Macular Type
Cataract, Decreased testicular size, External genital hypoplasia, Cryptorchidism, Corneal opacity ORPHA:1867
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Enlarged polycystic ov... ORPHA:91
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... OMIM:310600
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system... OMIM:120200
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Posterior subcapsular cataract, Cataract, Cryptorchidism OMIM:300578
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Micropenis, Optic nerve hypop... OMIM:610125
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Goiter, Pituitary hypothyroidism, Macroorchidism, ... ORPHA:90674
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Retinal detachment, Macular atrophy, Buphthalmos, Iris coloboma OMIM:212550
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:261534
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:99330
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Aniridia 3
Cataract, Aniridia OMIM:617142
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Warburg Micro Syndrome 2
Optic atrophy, Small scrotum, Cataract, Microcornea, Cryptorchidism, Hypoplastic labia majora, De... OMIM:614225
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Cryptorchidism, Sclerocornea, Iris coloboma ORPHA:139471
Exudative Vitreoretinopathy 6
Cataract, Nuclear cataract, Tractional retinal detachment, Retinal detachment, Cortical cataract,... OMIM:616468
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... ORPHA:1359
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Proteus Syndrome
Cataract, Retinal nonattachment, Long penis, Thymus hyperplasia, Central heterochromia, Abnormali... ORPHA:744
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Cataract, Microcornea, Cryptorchidism, Vaginal atresia, Septo-optic dysplasia, Iri... ORPHA:3301
Fuchs Heterochromic Iridocyclitis
Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, Iris atrophy, Hetero... ORPHA:263479
Aniridia 1
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Aniridia, Corneal neovascular... OMIM:106210
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Retinal coloboma, Iris cyst, ... OMIM:612109
Aspartylglucosaminuria
Cataract, Macroorchidism OMIM:208400
Norrie Disease
Optic atrophy, Cataract, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil ... ORPHA:649
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Pigmentary retinopathy, Clitoral hypertrophy, Cataract, Peters anomaly, Ovotestis,... OMIM:309801
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Atelis Syndrome 2
Developmental cataract, Remnants of the hyaloid vascular system OMIM:620185
Microphthalmia, Syndromic 2
Iris coloboma, Microcornea, Septate vagina, Cryptorchidism, Retinal detachment, Remnants of the h... OMIM:300166
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system ORPHA:637
Acromelic Frontonasal Dysostosis
Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Blue irides, Remnants of the hyaloid vascular system, Stel... OMIM:619539
Holoprosencephaly 2
Anterior pituitary agenesis, Iris coloboma, Remnants of the hyaloid vascular system OMIM:157170

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 Adamts12

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 Adamts12.

No publications found that use IMPC mice or data for Adamts12.

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MGI Allele Allele Type Produced
Adamts12tm289328(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Adamts12em1(IMPC)Mbp Exon Deletion Mice, Tissue

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