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Gene: Chchd2 MGI:1261428

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Gene Summary

Name:
coiled-coil-helix-coiled-coil-helix domain containing 2
Synonyms:
Etohi6

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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
small liver Chchd2em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Chchd2em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Chchd2em1(IMPC)Mbp HOM Early adult 7.12×10-05
abnormal liver morphology Chchd2em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Chchd2em1(IMPC)Mbp HOM Early adult 0.00
enlarged testis Chchd2em1(IMPC)Mbp HOM Early adult 0.00
cataract Chchd2em1(IMPC)Mbp HOM Early adult 7.52×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Chchd2 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.

The table below shows human diseases associated to Chchd2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Parkinson Disease 22, Autosomal Dominant
OMIM:616710

The table below shows human diseases predicted to be associated to Chchd2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired proprioception, Decreased activity of mitochondrial complex I, Sensory ataxia, Decreased... OMIM:500013
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Abnormal mitochondrial shape, Abnormal basal ganglia morpholog... ORPHA:543470
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex I, Abnormal mitochondrial morphology, Decreased activ... OMIM:618378
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Microcephaly OMIM:602541
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Spastic Paraplegia Type 7
Impaired vibration sensation in the lower limbs, Abnormal mitochondrial morphology, Cerebral cort... ORPHA:99013
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis ORPHA:3000
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Dystonia-Aphonia Syndrome
Cerebral atrophy, Abnormal mitochondrial shape ORPHA:412217
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Lewy bodies, Amyotrophic lateral sclerosis OMIM:619133
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Choreoathetosis, Abnormal mitochondrial morphology OMIM:300438
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Secondary microcephaly, Abnormal mitochondrial shape, Abnormal basal ganglia MRI signal intensity ORPHA:485421
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Chorea, Dysdiadochokinesis, Gait ataxia, Lewy bodies, Neurofibrillary tangles, ... OMIM:610217
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Leukoencephalopathy With Calcifications And Cysts
Cerebral calcification, Intracerebral periventricular calcifications, Ataxia, Basal ganglia calci... ORPHA:542310
Frontotemporal Dementia With Motor Neuron Disease
Progressive cerebellar ataxia, Abnormal upper motor neuron morphology, Abnormal mitochondrial mor... ORPHA:275872
Dementia, Lewy Body
Lewy bodies OMIM:127750
Partington Syndrome
Macroorchidism ORPHA:94083
Parkinson Disease 2, Autosomal Recessive Juvenile
Cerebral atrophy, Lewy bodies, Substantia nigra gliosis, Gait ataxia OMIM:600116
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Neurofibrillary tangles, Lewy bodies OMIM:616840
Mitochondrial Complex I Deficiency, Nuclear Type 29
Mitochondrial swelling, Decreased activity of mitochondrial complex I OMIM:618250
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Alexander Disease Type I
Abnormal cerebral white matter morphology, Ataxia, Rosenthal fibers, Focal T2 hyperintense basal ... ORPHA:363717
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Neurodegeneration With Brain Iron Accumulation 4
Lewy bodies, Abnormal lower motor neuron morphology, Ataxia, Eye of the tiger anomaly of globus p... OMIM:614298
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Cerebral atrophy, Abnormal basal ganglia MRI signal intensity, Abnormal mitochondrial shape, Decr... ORPHA:17
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Lewy bodies OMIM:614251
Parkinson Disease 21
Lewy bodies OMIM:616361
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Parkinson Disease 8, Autosomal Dominant
Lewy bodies, Substantia nigra gliosis OMIM:607060
Cataract 42
Cataract, Developmental cataract OMIM:115900
Parkinson Disease 4, Autosomal Dominant
Lewy bodies OMIM:605543
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Neurofibrillary tangles, Lewy bodies OMIM:607485
Idiopathic Camptocormia
Cerebral atrophy, Abnormal basal ganglia morphology, Lewy bodies, Abnormal cerebral white matter ... ORPHA:1320
Waisman Syndrome
Lewy bodies, Megalencephaly OMIM:311510
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I, Dysmetria OMIM:615578
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Fumarase Deficiency
Cerebral atrophy, Lissencephaly, Polymicrogyria, Open operculum, Microcephaly, Agenesis of corpus... OMIM:606812
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Morm Syndrome
Cataract, Retinal atrophy, Micropenis ORPHA:75858
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly OMIM:614876
Primary Progressive Freezing Gait
Cerebral cortical atrophy, Lewy bodies ORPHA:75567
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Juvenile cataract, Male hypogonadism, Macroorchidism OMIM:300055
Parkinson Disease, Late-Onset
Lewy bodies, Substantia nigra gliosis OMIM:168600
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
47,Xyy Syndrome
Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ... ORPHA:8
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Abnormal peritoneum morphology ORPHA:180229
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism ORPHA:363741
Parkinsonian-Pyramidal Syndrome
Lewy bodies, Substantia nigra gliosis ORPHA:171695
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Optic disc pallor, Hepatomegaly OMIM:613730
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Galactose Mutarotase Deficiency
Cataract, Hepatomegaly, Cholestasis, Decreased liver function ORPHA:570422
Isolated Follicle Stimulating Hormone Deficiency
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... ORPHA:52901
Fragile X Syndrome
Macroorchidism ORPHA:908
Galactose Epimerase Deficiency
Cataract, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Parkinson Disease 1, Autosomal Dominant
Lewy bodies OMIM:168601
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism ORPHA:2489
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Lewy bodies ORPHA:411602
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Cholestasis, Abnormal testis morphology, Hepatitis, Precoci... ORPHA:562
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Laurence-Moon Syndrome
Hypoplasia of penis, Displacement of the urethral meatus, Congenital hepatic fibrosis, Cataract, ... ORPHA:2377
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Cerebral cortex with spongiform changes OMIM:605055
Early-Onset Lafora Body Disease
Lafora bodies, Ataxia ORPHA:324290
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma OMIM:601794
Alzheimer Disease 3
Cerebral cortical atrophy, Neurofibrillary tangles, Optic ataxia OMIM:607822
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Epilepsy, Progressive Myoclonic, 10
Lafora bodies, Ataxia, Spastic ataxia, Progressive cerebellar ataxia OMIM:616640
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Alzheimer Disease 9, Susceptibility To
Cerebral cortical atrophy, Hippocampal atrophy, Neurofibrillary tangles OMIM:608907
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Neurofibrillary tangles OMIM:619132
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... ORPHA:91349
Coats Disease
Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Abnormality of the liver, Pigmentary retinopathy, Hypergonadotropic hypogonadism OMIM:614307
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Cataract, Pigmentary retinopathy OMIM:204000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Ubiquitin-positive cerebral inclusion bodies, Amyotrophic later... ORPHA:52430
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract OMIM:614292
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:117300
Gerstmann-Straussler Disease
Limb ataxia, Truncal ataxia, Neurofibrillary tangles, Gait ataxia OMIM:137440
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Ataxia, Neurofibrillary tangles ORPHA:1020
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Wagr Syndrome
Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri... ORPHA:893
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Retinitis Pigmentosa 4
Cataract, Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy OMIM:613731
Stickler Syndrome Type 2
Retinal detachment, Corneal opacity, Cataract ORPHA:90654
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Microcephaly, Decreased mitochondrial number ORPHA:352447
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Retinitis Pigmentosa 84
Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy OMIM:618220
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles, Cerebral cortex with spongiform changes OMIM:606688
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Thyroid hypoplasia, Prolonged neonatal jaundice, Goiter, Increased circ... ORPHA:90674
Trisomy 20P
Cryptorchidism, Hypospadias, Macroorchidism ORPHA:261318
46,Xy Sex Reversal 10
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... OMIM:616425
Niemann-Pick Disease, Type C1
Ataxia, Neurofibrillary tangles, Gait ataxia OMIM:257220
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Nummular pigmentation of the fundus, Cataract, Pigmentary retinopathy OMIM:613835
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Galactosemia I
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating alanine aminotransferase ... OMIM:230400
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Cataract... OMIM:618805
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Cataract, Ambiguo... ORPHA:3376
Hereditary Bullous Dystrophy, Macular Type
External genital hypoplasia, Corneal opacity, Decreased testicular size, Cataract, Cryptorchidism ORPHA:1867
Cataract 47
Cataract, Microcornea OMIM:612018
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Barth Syndrome
Abnormal mitochondrial morphology OMIM:302060
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Niemann-Pick Disease, Type C2
Ataxia, Neurofibrillary tangles OMIM:607625
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, He... ORPHA:1359
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene... OMIM:214110
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Cataract, Cryptorchidism, Pigmentary retinopathy OMIM:300578
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Ambiguous... ORPHA:261534
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm ORPHA:523
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc colobom... OMIM:120200
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micropenis, Ectopic posterior pitu... OMIM:610125
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iris coloboma OMIM:212550
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Aspartylglucosaminuria
Cataract, Hepatomegaly, Macroorchidism OMIM:208400
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Proteus Syndrome
Buphthalmos, Ovarian neoplasm, Long penis, Testicular neoplasm, Retinal nonattachment, Enlarged p... ORPHA:744
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Exudative Vitreoretinopathy 6
Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme... OMIM:616468
Lafora Disease
Lafora bodies, Ataxia ORPHA:501
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Myoclonic Epilepsy Of Lafora 1
Lafora bodies OMIM:254780
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Adult-Onset Dystonia-Parkinsonism
Frontotemporal cerebral atrophy, Generalized cerebral atrophy/hypoplasia, Neurofibrillary tangles ORPHA:199351
Aspartylglucosaminuria
Splenomegaly, Hepatomegaly, Macroorchidism ORPHA:93
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Granulovacuolar degeneration, Neurofibrillary tangles, Neuronal loss in basal g... OMIM:601104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Meckel Syndrome
Optic atrophy, Accessory spleen, Microcornea, Male pseudohermaphroditism, True hermaphroditism, C... ORPHA:564
Supranuclear Palsy, Progressive, 2
Neuronal loss in basal ganglia, Granulovacuolar degeneration, Neurofibrillary tangles OMIM:609454
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Papilledema,... ORPHA:263479
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ... OMIM:106210
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Reti... OMIM:612109
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepatitis, Exocrine pancreat... OMIM:269200
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t... ORPHA:649
Atelis Syndrome 2
Developmental cataract, Remnants of the hyaloid vascular system OMIM:620185
Microphthalmia, Syndromic 2
Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmen... OMIM:300166
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Full Nf2-Related Schwannomatosis
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system ORPHA:637
Neuroocular Syndrome
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp... OMIM:619539
Holoprosencephaly 2
Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
Parkinson Disease 22, Autosomal Dominant
OMIM:616710

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 Chchd2

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 Chchd2.

No publications found that use IMPC mice or data for Chchd2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Chchd2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chchd2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Chchd2tm42525(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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