Gene Summary

Name:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 12
Synonyms:
N/A

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 testis morphology Adamts12em1(IMPC)Mbp HOM Early adult 0.00
enlarged testis Adamts12em1(IMPC)Mbp HOM Early adult 0.00
cataract Adamts12em1(IMPC)Mbp HOM   Early adult 2.67×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

Phenotype associated images not available

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
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Aniridia 3
Cataract OMIM:617142
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Precocious puberty, Long penis ORPHA:3000
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Perineal hypospadias, Cryptorchidism, Mic... OMIM:615542
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Spastic Paraparesis And Deafness
Hypogonadism, Cataract OMIM:312910
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Cryptorchidism, Decreased te... ORPHA:1646
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size, Microphallus OMIM:614840
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Partington Syndrome
Macroorchidism ORPHA:94083
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Non-obstructive azoospermia OMIM:619528
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia OMIM:619145
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Cataract ORPHA:1875
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism, Hypoplasia of penis ORPHA:1381
Galactosemia Iv
Cataract OMIM:618881
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
X-Linked Retinoschisis
Cataract ORPHA:792
Hypogonadism-Cataract Syndrome
Hypogonadism, Male hypogonadism, Cataract, Elevated circulating follicle stimulating hormone level OMIM:240950
Spastic Paraparesis-Deafness Syndrome
Hypogonadism, Cataract ORPHA:2815
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
46,Xy Sex Reversal 10
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... OMIM:616425
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract ORPHA:2489
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Galactosemia Ii
Cataract OMIM:230200
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Micropenis, Decreased testicular size, Cryptorchidism OMIM:616030
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Azoospermia, Hypogonadotropic hypogo... ORPHA:52901
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Juvenile cataract, Male hypogonadism OMIM:300055
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 47
Microcornea, Cataract OMIM:612018
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... ORPHA:8
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Cryptorchidism, External genital hypoplasia, Cataract ORPHA:363741
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size OMIM:614858
Fragile X Syndrome
Macroorchidism ORPHA:908
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Morm Syndrome
Micropenis, Cataract ORPHA:75858
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism OMIM:614279
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Cryptorchidism, Cataract OMIM:601794
Aniridia 2
Aniridia, Cataract OMIM:617141
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Ambiguous genitalia, Catarac... ORPHA:893
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Adrenocorticotropic hormone... ORPHA:91348
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microcornea, Cataract ORPHA:2528
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Micropenis, Decreased testicular size, Cryptorchidism OMIM:614880
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Cataract ORPHA:250994
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cataract OMIM:613730
Non-Functioning Pituitary Adenoma
Macroorchidism, Macroorchidism, postpubertal, Adrenocorticotropic hormone deficiency, Hypogonadot... ORPHA:91349
Nathalie Syndrome
Cataract OMIM:255990
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Polyembryoma
Macroorchidism, Isosexual precocious puberty ORPHA:180229
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Micropenis, Decreased testicular size, Cryptorchidism, Azoospermia OMIM:614897
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Cataract 11, Multiple Types
Cataract OMIM:610623
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism, Iris coloboma OMIM:618874
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Endometrial carcinoma, Female external genitalia in individu... ORPHA:90790
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Increa... ORPHA:325124
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, External genital hypoplasia, Cataract OMIM:612947
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Laurence-Moon Syndrome
Iris coloboma, Displacement of the urethral meatus, Cataract, Cryptorchidism, Hypoplasia of penis ORPHA:2377
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Vaginal neoplasm, Cataract, Uterine leiomyoma ORPHA:523
Mccune-Albright Syndrome
Macroorchidism, Goiter, Abnormal testis morphology, Hyperplasia of the Leydig cells, Elevated cir... ORPHA:562
Retinitis Pigmentosa
Hypogonadism, Abnormal testis morphology, Cataract, Hypoplasia of penis, Keratoconus ORPHA:791
Retinitis Pigmentosa 84
Cataract OMIM:618220
Cataract 43
Subcapsular cataract OMIM:616279
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ambiguous genitalia, Cataract, Hypoplasia of penis ORPHA:2772
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Trisomy 20P
Hypospadias, Macroorchidism, Cryptorchidism ORPHA:261318
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Polycystic ovaries, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Decreased testicula... ORPHA:3085
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Cataract, Developmental cataract OMIM:619420
Hereditary Bullous Dystrophy, Macular Type
External genital hypoplasia, Corneal opacity, Cataract, Cryptorchidism, Decreased testicular size ORPHA:1867
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Cataract, Secondary growth hormone deficiency, Increased circulat... ORPHA:2410
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Aromatase Deficiency
Macroorchidism, postpubertal, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Female... ORPHA:91
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased thyroid-stimulati... ORPHA:90674
Pellagra-Like Syndrome
Cataract OMIM:260650
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract OMIM:146200
49,Xxxyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Micropenis, Ambiguous geni... ORPHA:261534
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
49,Xyyyy Syndrome
Developmental cataract, Azoospermia, External genital hypoplasia, Increased circulating gonadotro... ORPHA:99330
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Sclerocornea, Cataract, Microcornea, Precocious puberty, Ectopia pupillae OMIM:615877
Microphthalmia, Syndromic 5
Microcornea, Micropenis, Cataract, Ectopic posterior pituitary, Cryptorchidism OMIM:610125
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Iris coloboma, Cataract, Cryptorchidism, Microcornea ORPHA:139471
Warburg Micro Syndrome 2
Hypoplastic labia majora, Developmental cataract, Micropenis, Cataract, Cryptorchidism, Microcornea OMIM:614225
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Myotonic Dystrophy 1
Testicular atrophy, Cataract, Cholelithiasis, Hypogonadism OMIM:160900
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Carney Complex
Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Euthyroi... ORPHA:1359
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy, Abnormal morphology of female internal genitalia ORPHA:1839
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Buphthalmos, Thymus hyperplasia, Long penis, Central heterochro... ORPHA:744
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Aspartylglucosaminuria
Macroorchidism, Cataract OMIM:208400
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
External genital hypoplasia, Iris coloboma, Hypogonadism, Cataract, Cryptorchidism, Hypoplasia of... ORPHA:2250
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Chordee, Sclerocornea, Iris coloboma, Clitoral hypertrophy, Micropenis, Cataract, Ov... OMIM:309801
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Hypoplastic labia majora, Hypogonadotropic hypogonadism, Micropenis, Cataract, Crypt... OMIM:603457

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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