Gene Summary

Name:
disco interacting protein 2 homolog C
Synonyms:
2900024P20Rik

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
increased monocyte cell number Dip2cem1(IMPC)Tcp HET Early adult 7.76×10-07
enlarged urinary bladder Dip2cem1(IMPC)Tcp HET Early adult 0.00
abnormal uterus morphology Dip2cem1(IMPC)Tcp HET Early adult 0.00
preweaning lethality, incomplete penetrance Dip2cem1(IMPC)Tcp HOM   Early adult 0.00
enlarged adrenal glands Dip2cem1(IMPC)Tcp HOM Early adult 0.00
cataract Dip2cem1(IMPC)Tcp HET   Early adult 7.14×10-05
small thymus Dip2cem1(IMPC)Tcp HET Early adult 0.00
abnormal sternum morphology Dip2cem1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Dip2cem1(IMPC)Tcp HET Early adult 0.00

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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

133 Images

Eye Morphology

Images Slit Lamp

124 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Gross Pathology and Tissue Collection

Images

16 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Dip2c 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 Dip2c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronism OMIM:103900
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
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
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Aniridia 3
Cataract OMIM:617142
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Abnormal calcium-phosphate regulating hormone level, Decreased cir... ORPHA:3453
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretory adrenocorti... ORPHA:404
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperal... ORPHA:403
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis, Nephrotic syndrome,... OMIM:619644
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Micropenis OMIM:610680
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Primary hypercortisolism, Adrenal hyperplasia, Decreased circul... OMIM:219080
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Hydronephrosis, Splenomegaly, Thrombocytopenia, Hepatome... OMIM:612541
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased circulating cortisol level, Diabetes mellitus, Primary hypercortis... OMIM:615830
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Cataract, Aminoaciduria ORPHA:2278
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Abnormal circulating ... ORPHA:251274
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circulatin... ORPHA:95699
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Trichomegaly
Cataract OMIM:190330
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Male... ORPHA:90793
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Splenomegaly, Hepatomegaly ORPHA:79238
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Maternal Uniparental Disomy Of Chromosome 6
Slender long bone, Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone... ORPHA:96181
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Genital ulcers, Aplasia of the thymus OMIM:602450
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia ORPHA:369929
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Primary Pigmented Nodular Adrenocortical Disease
Testicular neoplasm, Increased urinary cortisol level, Paradoxical increased cortisol secretion o... ORPHA:189439
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Hepatosplenomegaly, Lymphadenitis, Leukopenia, Impaired neutroph... OMIM:618986
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Increase... ORPHA:90791
Galactosemia Iv
Cataract OMIM:618881
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Hypogonadism-Cataract Syndrome
Cataract, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogonadism OMIM:240950
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
46,Xy Sex Reversal 11
Aplasia of the uterus, Elevated circulating luteinizing hormone level, Abnormal internal genitali... OMIM:273250
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abnormal response to corticotropin releasing hormone stimulation test, Macronodular adrenal hyper... ORPHA:189427
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Cataract, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Increased serum test... OMIM:202010
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Abnormal circulating androgen level, Macroorchidism, Hypera... ORPHA:90790
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Cryptorchidism, Microp... ORPHA:755
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Decreased circulating aldosterone level, Abnormal circulating t... ORPHA:786
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Cryptorchidism, Cataract, Hepatomegaly OMIM:613730
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612964
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Cryptorchidism, Abnormal morphology of female internal genital... ORPHA:2138
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Azoospermia, ... OMIM:614837
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Cataract, Chronic kidney disease, Premature ovarian insufficiency... ORPHA:3156
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Short sternum OMIM:184800
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Aniridia, ... OMIM:194072
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Fish-Eye Disease
Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenopathy ORPHA:79292
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Burkitt Lymphoma
Abnormality of the lymph nodes, Decreased proportion of CD4-positive helper T cells, Abnormality ... ORPHA:543
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia... OMIM:619151
Wagr Syndrome
Cryptorchidism, Cataract, Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Am... ORPHA:893
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
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis with female appearance, male, Abnormal vagina morphology, Abnormality of femal... ORPHA:168563
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Cataract, Uterine leiomyosarcoma, Vaginal neoplasm ORPHA:523
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Galactosemia I
Cataract, Hepatomegaly, Hypergonadotropic hypogonadism, Aminoaciduria, Hemolytic anemia, Increase... OMIM:230400
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Micropenis, Elevated circulating luteinizing hormone... ORPHA:90797
Galactokinase Deficiency
Hepatosplenomegaly, Cataract, Hepatomegaly, Increased level of galactitol in urine, Nuclear catar... ORPHA:79237
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... ORPHA:99429
Testicular Agenesis
Hypoplasia of the uterus, Absent testis, Micropenis, Absent external genitalia, Abnormal vas defe... ORPHA:325124
Androgen Insensitivity Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Testicular neoplasm, Aplasia/hy... ORPHA:754
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia ORPHA:363741
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of th... OMIM:158330
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Neutrophilia, Anemia, Liver abscess, Abnormality of the lymph nodes, ... ORPHA:54251
Premature Ovarian Failure 6
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612310
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619203
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Proteinuria, Cataract, ... OMIM:256550
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Doors Syndrome
Abnormality of toe, Cutaneous syndactyly, 11 pairs of ribs, Triphalangeal thumb, Short 5th finger... ORPHA:79500
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619665
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Nephrocalcinosis, Nephrotic syndrome, Septate vagina, Hematuria, Proteinur... OMIM:146255
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Cushing Disease
Pituitary corticotropic cell adenoma, Increased urinary cortisol level, Paradoxical increased cor... ORPHA:96253
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Decreased testicular size, Hypoplasia ... OMIM:614841
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... OMIM:613179
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Lumbar Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Bladder exstrophy, Hypospadias, Bifid uteru... ORPHA:83628
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Splenomegaly, Hepatomegaly, Hemolytic anemia OMIM:608885
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Medullary thyroid carcinoma, Increased urinary cortisol level, Pancrea... ORPHA:99889
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Hypogonadism OMIM:601794
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Proteus-Like Syndrome
Heterochromia iridis, Polycystic ovaries, Cataract, Splenomegaly, Abnormality of the parathyroid ... ORPHA:2969
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Ovotestis, Hypoplasia of the vagina, Micropenis, Azoospermia... OMIM:278850
Aniridia-Absent Patella Syndrome
Cryptorchidism, Cataract, Aniridia ORPHA:1069
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Hereditary Mucoepithelial Dysplasia
Abnormal morphology of female internal genitalia, Cataract, Corneal dystrophy, Hematuria ORPHA:1839
Aniridia 2
Cataract, Aniridia OMIM:617141
Proximal Myotonic Myopathy
Cataract ORPHA:606
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Septate vagina, Hydronephrosis, Uterus didelphy... ORPHA:2237
Lymphedema-Hypoparathyroidism Syndrome
Cataract, Pulmonary lymphangiectasia, Hypoparathyroidism, Nephropathy, Renal insufficiency OMIM:247410
Warburg Micro Syndrome 2
Hypoplastic labia majora, Developmental cataract, Small scrotum, Cryptorchidism, Microcornea, Cat... OMIM:614225
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Cataract, Anterior lenticonus, Nephritis, Renal insuf... OMIM:203780
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypoparathyroidism OMIM:146200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae, Precocious puberty, Hypospadias OMIM:615877
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Agammaglobulinemia, X-Linked
T lymphocytopenia, Prostatitis, Neutropenia, Anemia, Epididymitis, B lymphocytopenia, Lymph node ... OMIM:300755
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
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Ectopic kidney, Horseshoe kidney, Hypoplasia of... ORPHA:3109
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Female external genitalia in individua... ORPHA:289548
Perrault Syndrome 4
Bicornuate uterus, Premature ovarian insufficiency, Increased circulating gonadotropin level, Hyp... OMIM:615300
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Nephrocalcinosis, Female hypogonadism, Cataract, Hypoparathyroidism, Male hypogon... OMIM:240300
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Accessory spleen, Cryptorchidism, Micropenis, Patent urachus, Bifid scrotu... OMIM:618280
Vaginal Atresia
Vaginal hematocele, Uterus didelphys, Vaginal atresia, Transverse vaginal septum, Abnormality of ... ORPHA:65681
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Oeis Complex
Rectovaginal fistula, Cryptorchidism, Hydronephrosis, Micropenis, Bladder exstrophy, Ambiguous ge... OMIM:258040
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypoplasia of the ... ORPHA:3130
46,Xy Sex Reversal 4
Hypoplastic labia majora, Hydronephrosis, Gonadal dysgenesis, Ureteropelvic junction obstruction,... OMIM:154230
Microphthalmia, Syndromic 5
Cryptorchidism, Microcornea, Cataract, Micropenis, Ectopic posterior pituitary OMIM:610125
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Micropenis, Azoospermia, Non-... ORPHA:432
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Upper limb undergrowth, Duplication of phalanx of hallux, Proximal tibi... OMIM:236680
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Microcoria, Polycystic kidney dysplasia OMIM:263100
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Sclerocornea, Micropenis, Cataract, Hypospadias, Hypoplasia of the uterus, Ir... OMIM:309801
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Popliteal Pterygium Syndrome
Intercrural pterygium, Hypoplastic labia majora, Small scrotum, Popliteal pterygium, Hypoplasia o... OMIM:119500
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Microphthalmia, Syndromic 9
Hypoplastic spleen, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Renal hypoplasia, Bicornuat... OMIM:601186
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Polycystic ovaries, Cryptorchidism, Elevated circulating luteinizing ho... ORPHA:90796
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Proteinuria, Cataract, Lenticonus, Anterior lenticonus, Abnormal renal physiology, Nep... OMIM:308940
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Cataract, Keratoconjunctivitis, Iron deficiency anemia, Asplenia, Thymoma OMIM:269200
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Renal cyst, Unicornuate uterus, Ureteral atresi... OMIM:614527
Tetraamelia Syndrome 1
Adrenal gland agenesis, Cataract, Vaginal atresia, Absent external genitalia, Asplenia, Hypoplasi... OMIM:273395
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Sclerocornea, Microcornea, Cataract, Cryptorchidism, Ureteral... ORPHA:564
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Aplasia of the uterus, Leukocytosis, Hepatosplenomegaly, Pancreatic cysts, Horsesho... OMIM:274000
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Horseshoe kidney, Thrombocytopenia ORPHA:3320
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Hypoplasia of the uterus, ... ORPHA:785
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Epididymal cyst, Nephrolithiasis, Decreased nu... OMIM:137920
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Hypogonadotropic hypogonadism, Precocious puberty in females, Premature pu... ORPHA:90794
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Premature ovarian insufficiency, Hypoplasia of the uterus, Increased circulating gon... OMIM:110100
Craniorachischisis
Bifid sternum ORPHA:63260
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Exstrophy-Epispadias Complex
Abnormality of the ureter, Horseshoe kidney, Bifid penis, Cryptorchidism, Renal hypoplasia, Bladd... ORPHA:322
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Hydronephrosis, Aplasia of the vagina, Absent external genitalia, Urethral... OMIM:271520
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the fallopian tube, Elevated circulating... OMIM:241080
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Cryptorchidism, Micropenis, Absent penis, Abnormal scrotal rugation, Ambig... ORPHA:284339
Limb-Mammary Syndrome
Aplasia of the uterus, Absent nipple, Chronic irritative conjunctivitis, Aplasia of the ovary, Hy... ORPHA:69085
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Abnormal spermatogenesis, Hypoplasia of the fallopian tube,... ORPHA:3464
Norrie Disease
Hypoplasia of the iris, Sclerocornea, Cryptorchidism, Cataract, Corneal opacity, Aplasia/Hypoplas... ORPHA:649
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Okamoto Syndrome
Unilateral renal hypoplasia, Hydronephrosis, Astigmatism, Splenomegaly, Bifid uterus, Ureteropelv... ORPHA:2729
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
Coffin-Siris Syndrome 9
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus OMIM:615866
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Wolf-Hirschhorn Syndrome
Aplasia of the uterus, Accessory spleen, Cryptorchidism, Hypospadias, Ectopia pupillae, Rieger an... OMIM:194190
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Anemia, Uterine rupture, Keratoconus, C... OMIM:130050
Coffin-Lowry Syndrome
Narrow iliac wing, Coxa valga, Short metacarpal, Tapered finger, Hyperextensibility of the finger... OMIM:303600
Coffin-Siris Syndrome 1
Aplasia of the uterus, Ectopic kidney, Cryptorchidism, Hydronephrosis, Astigmatism, Renal hypopla... OMIM:135900
Peters Plus Syndrome
Ureteral duplication, Cryptorchidism, Microcornea, Cataract, Corneal opacity, Anterior hypopituit... ORPHA:709
Neu-Laxova Syndrome 1
Cryptorchidism, Cataract, Pterygium, Bifid uterus OMIM:256520
Rubinstein-Taybi Syndrome 1
Papillary cystadenoma of the epididymis, Abnormal cornea morphology, Leukemia, Cryptorchidism, Ca... OMIM:180849
Townes-Brocks Syndrome 1
Rectovaginal fistula, Cryptorchidism, Renal hypoplasia, Hypospadias, Multicystic kidney dysplasia... OMIM:107480
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Polycystic ovaries, Elevated circulating luteinizing hormone level, Ele... ORPHA:572333
Peters-Plus Syndrome
Hypoplastic labia majora, Hypoplasia of the vagina, Ureteral duplication, Cryptorchidism, Hydrone... OMIM:261540
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia of the uterus, Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic... OMIM:276820
Vascular Ehlers-Danlos Syndrome
Bladder diverticulum, Cryptorchidism, Uterine prolapse, Abnormal pupil morphology, Renovascular h... ORPHA:286
Pallister-Killian Syndrome
Hypoplastic labia majora, Renal cyst, Small scrotum, Aplasia of the uterus, Cryptorchidism, Super... OMIM:601803
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030

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 Dip2c

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 Dip2c.

No publications found that use IMPC mice or data for Dip2c.

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MGI Allele Allele Type Produced
Dip2ctm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dip2ctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dip2ctm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dip2cem1(IMPC)Tcp Exon Deletion Mice

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