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Gene: Adamts12 MGI:2146046

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Gene Summary

Name:
a disintegrin-like and metallopeptidase (reprolysin type) 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 4.73×10-05
enlarged testis Adamts12em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Adamts12em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Adamts12em1(IMPC)Mbp HOM   Early adult 5.10×10-05

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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
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Testes, Rudimentary
Decreased testicular size, Hypergonadotropic hypogonadism, Hypoplastic male external genitalia 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 Male-Limited Precocious Puberty
Macroorchidism, Oligospermia, Precocious puberty, Long penis ORPHA:3000
Aniridia 3
Cataract OMIM:617142
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Cataract 42
Cataract, Developmental cataract OMIM:115900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Testicular Regression Syndrome
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... ORPHA:983
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Partington Syndrome
Macroorchidism ORPHA:94083
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, C... ORPHA:1646
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis OMIM:614840
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Trichomegaly
Cataract OMIM:190330
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Nathalie Syndrome
Cataract ORPHA:2663
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... OMIM:309300
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cataract, Cryptorchidism, Retinal coloboma ORPHA:363741
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cataract, Abnormality of the ovary, Hypogonadism ORPHA:1875
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the lens ORPHA:1381
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Fragile X Syndrome
Congenital macroorchidism, Macroorchidism, postpubertal OMIM:300624
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma OMIM:601794
Galactosemia Iv
Cataract OMIM:618881
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia ORPHA:1068
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism ORPHA:2489
Coats Disease
Retinal detachment, Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Microcornea ORPHA:231736
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
47,Xyy Syndrome
Macroorchidism, Azoospermia, Oligospermia, Increased circulating gonadotropin level, Hypospadias,... ORPHA:8
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Macroorchidism, Juvenile cataract OMIM:300055
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lattice retinal degeneration, Cataract, Lens subluxation OMIM:614292
Fragile X Syndrome
Macroorchidism ORPHA:908
Galactosemia Ii
Cataract OMIM:230200
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased testicular size, Azoospermia, Male hypogo... ORPHA:52901
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Morm Syndrome
Retinal atrophy, Cataract, Micropenis ORPHA:75858
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Peripheral tractional retinal detachment, Cataract, Optic atr... OMIM:143200
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity ORPHA:90654
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... ORPHA:91348
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Macular atrophy, Bone spicule pigmentation of the retina OMIM:618220
Retinitis Pigmentosa 9
Cataract, Macular atrophy, Bone spicule pigmentation of the retina OMIM:180104
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Non-Functioning Pituitary Adenoma
Female hypogonadism, Macroorchidism, Decreased response to growth hormone stimulation test, Hypog... ORPHA:91349
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract OMIM:616468
Polyembryoma
Macroorchidism, Isosexual precocious puberty ORPHA:180229
Retinitis Pigmentosa 4
Retinal atrophy, Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina OMIM:613731
Cataract 47
Cataract, Microcornea OMIM:612018
Wagr Syndrome
Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Cataract, Cryptorchidism, Displacement of th... ORPHA:893
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Cryptorchidism ORPHA:1069
Retinitis Pigmentosa
Abnormal testis morphology, Optic atrophy, Hypogonadism, Hypoplasia of penis, Abnormality of reti... ORPHA:791
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Retinal detachment ORPHA:1473
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Iris coloboma, Hypospadias OMIM:618874
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Bone spicule pigmentation of the retina, C... OMIM:611040
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Abnormality of retinal pigmentation, Cataract, Polycystic ovaries, Hyp... ORPHA:3085
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Abnormality of female external genitalia, Adrenal hyperplasia, Male pseudohermaph... ORPHA:90790
Persistent Hyperplastic Primary Vitreous
Tractional retinal detachment, Persistent pupillary membrane, Leukocoria, Hyaloid vascular remnan... ORPHA:91495
Cone-Rod Dystrophy 16
Cataract, Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina OMIM:614500
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract OMIM:601547
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor, Cryptorchidism OMIM:613730
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Lens subluxation, Retinal detachment, Microphakia ORPHA:171844
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Laurence-Moon Syndrome
Hypoplasia of penis, Iris coloboma, Cataract, Cryptorchidism, Displacement of the urethral meatus ORPHA:2377
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Macular coloboma, Pigmentary retinopathy, Nummular pigmentation of the fundus OMIM:613835
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Retinal nonatt... OMIM:221900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Mccune-Albright Syndrome
Macroorchidism, Increased circulating prolactin concentration, Precocious puberty, Abnormal testi... ORPHA:562
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Trisomy 20P
Macroorchidism, Hypospadias, Cryptorchidism ORPHA:261318
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Proximal Myotonic Myopathy
Cataract ORPHA:606
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Uterine leiomyoma, Vaginal neoplasm, Uterine leiomyosarcoma ORPHA:523
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Stickler Syndrome, Type V
Retinal detachment, Cataract OMIM:614284
Hereditary Bullous Dystrophy, Macular Type
External genital hypoplasia, Decreased testicular size, Cataract, Corneal opacity, Cryptorchidism ORPHA:1867
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermaphroditism, Macroorch... ORPHA:91
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anomaly, Corneal opacity, Op... OMIM:120200
Norrie Disease
Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, Shallow anteri... OMIM:310600
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Thyroid hypoplasia, Decreased thyr... ORPHA:90674
Microphthalmia, Syndromic 5
Microcornea, Ectopic posterior pituitary, Optic nerve hypoplasia, Cataract, Cryptorchidism, Micro... OMIM:610125
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Cataract, Cryptorchidism, Pigmentary retinopathy OMIM:300578
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Retinal detachment OMIM:212550
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
49,Xxxyy Syndrome
Ambiguous genitalia, Abnormality of the testis size, External genital hypoplasia, Decreased testi... ORPHA:261534
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Cataract 39, Multiple Types
Anterior polar cataract, Lamellar cataract, Developmental cataract OMIM:615188
49,Xyyyy Syndrome
Abnormality of the testis size, External genital hypoplasia, Decreased testicular size, Azoosperm... ORPHA:99330
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Warburg Micro Syndrome 2
Optic atrophy, Hypoplastic labia majora, Developmental cataract, Microcornea, Cataract, Cryptorch... OMIM:614225
Microphthalmia With Brain And Digit Anomalies
Microcornea, Iris coloboma, Cataract, Cryptorchidism, Sclerocornea ORPHA:139471
Carney Complex
Leydig cell neoplasia, Increased circulating prolactin concentration, Precocious puberty, Macroor... ORPHA:1359
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Proteus Syndrome
Macroorchidism, Enlarged polycystic ovaries, Central heterochromia, Abnormality of retinal pigmen... ORPHA:744
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract OMIM:619649
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Macroorchidism, Precocious puberty OMIM:619950
Cataract 15, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Septo-optic dysplasia, Microcornea, Vaginal atresia, Iris coloboma, Cataract, Cryp... ORPHA:3301
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the... OMIM:609049
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract ORPHA:2714
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Ectopia lentis, Anterior sub... OMIM:106210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid vascular system, Peters anomal... OMIM:614643
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Aspartylglucosaminuria
Macroorchidism, Cataract OMIM:208400
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Iris coloboma, Peters anomaly, Cataract, Micropenis, Ovotestis, Chordee, Hy... OMIM:309801
Norrie Disease
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Ute... ORPHA:649
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Hypopituitarism, Cryptorchidism, Optic nerve hypoplasia OMIM:603671
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Microphthalmia, Syndromic 2
Developmental cataract, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma, Hypo... OMIM:300166
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Neuroocular Syndrome
Brushfield spots, Lens coloboma, Microcornea, Remnants of the hyaloid vascular system, Iris colob... OMIM:619539
Holoprosencephaly 2
Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Iris coloboma 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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