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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
abnormal liver morphology Chchd2em1(IMPC)Mbp HOM Early adult 0.00
cataract Chchd2em1(IMPC)Mbp HOM   Early adult 6.14×10-08
small liver Chchd2em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Chchd2em1(IMPC)Mbp HOM   Early adult 6.74×10-08
abnormal skin morphology Chchd2em1(IMPC)Mbp HOM Early adult 0.00
enlarged testis Chchd2em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Chchd2em1(IMPC)Mbp HOM Early adult 0.00
abnormal coat/ hair morphology Chchd2em1(IMPC)Mbp HOM Early adult 9.31×10-05

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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 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 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 vibratory sensation, Mitochondrial hypertrophy, Decreased activity of mitochondrial comp... OMIM:500013
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Diffuse cerebral atrophy, Abnormal mitochondrial shape, Ataxia, Periventricular white matter hypo... ORPHA:543470
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Abnormal hair morphology, Precocious puberty, Long penis, Oligozoospermia, Macr... ORPHA:3000
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Spastic Paraplegia Type 7
Somatic sensory dysfunction, Impaired vibration sensation in the lower limbs, Abnormal mitochondr... ORPHA:99013
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Microcephaly OMIM:602541
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Hsd10 Mitochondrial Disease
Choreoathetosis, Cerebral cortical atrophy, Abnormal mitochondrial morphology OMIM:300438
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Cerebral atrophy ORPHA:412217
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Lewy bodies OMIM:619133
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal basal ganglia MRI signal intensity, Abnormal mitochondrial shape, Secondary microcephaly ORPHA:485421
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Neurofibrillary tangles, Temporal cortical atrophy, Front... ORPHA:100070
Leukoencephalopathy With Calcifications And Cysts
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Basal ganglia calci... ORPHA:542310
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal mitochondrial morphology, Neuronal loss in the c... ORPHA:275872
Neurodegeneration With Brain Iron Accumulation 2B
Neurofibrillary tangles, Chorea, Cerebral atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Le... OMIM:610217
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Dementia, Lewy Body
Lewy bodies OMIM:127750
Caribbean Parkinsonism
T2 hypointense basal ganglia, Progressive gait ataxia, Lewy bodies, Midline brain calcifications,... ORPHA:97355
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Partington Syndrome
Macroorchidism ORPHA:94083
17Q11.2 Microduplication Syndrome
Sparse eyebrow, Macroorchidism, Sparse eyelashes ORPHA:139474
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy OMIM:616840
Alexander Disease Type I
Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morphology, Rosenthal ... ORPHA:363717
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal basal ganglia MRI signal intensity, Abnormal mitochondrial shape, Microcephaly, Decrease... ORPHA:17
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Lewy bodies, Ataxia, Eye of the tiger anomaly of globus p... OMIM:614298
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Lewy bodies OMIM:614251
Parkinson Disease 21
Lewy bodies OMIM:616361
Parkinson Disease 8, Autosomal Dominant
Lewy bodies, Substantia nigra gliosis OMIM:607060
Parkinson Disease 4, Autosomal Dominant
Lewy bodies OMIM:605543
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Dysmetria OMIM:615578
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy OMIM:607485
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Synophrys OMIM:300143
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal basal ganglia morphology, Cerebral atrophy, Abnormal cere... ORPHA:1320
Waisman Syndrome
Lewy bodies, Megalencephaly OMIM:311510
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Cataract 42
Cataract, Developmental cataract OMIM:115900
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Fumarase Deficiency
Microcephaly, Cerebral atrophy, Lissencephaly, Mitochondrial swelling, Agenesis of corpus callosu... OMIM:606812
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Xp22.13P22.2 Duplication Syndrome
Sparse hair, High anterior hairline, Macroorchidism, Polycystic ovaries ORPHA:284180
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Polyembryoma
Abnormal peritoneum morphology, Macroorchidism, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Primary Progressive Freezing Gait
Lewy bodies, Cerebral cortical atrophy ORPHA:75567
Parkinson Disease, Late-Onset
Lewy bodies, Substantia nigra gliosis OMIM:168600
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Juvenile cataract OMIM:300055
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Cataract, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea OMIM:620312
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Fragile X Syndrome
Macroorchidism ORPHA:908
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Parkinsonian-Pyramidal Syndrome
Lewy bodies, Substantia nigra gliosis ORPHA:171695
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Parkinson Disease 1, Autosomal Dominant
Lewy bodies OMIM:168601
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyelashes, Hypospadias, Sparse eyebrow, Macroorchidism, Alopecia of scalp, Iris coloboma OMIM:618874
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Optic disc pallor, Cryptorchidism OMIM:613730
Hereditary Late-Onset Parkinson Disease
Lewy bodies, Cerebral cortical atrophy ORPHA:411602
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Decreased liver function, Cholestasis ORPHA:570422
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Cerebral cortex with spongiform changes OMIM:605055
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Early-Onset Lafora Body Disease
Ataxia, Lafora bodies ORPHA:324290
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Cataract ORPHA:79238
Alzheimer Disease 3
Neurofibrillary tangles, Cerebral cortical atrophy, Optic ataxia OMIM:607822
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Progressive cerebellar ataxia, Ataxia, Lafora bodies OMIM:616640
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma ORPHA:363741
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism ORPHA:1381
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract ORPHA:2489
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis OMIM:619132
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy OMIM:608907
Senior-Loken Syndrome
Congenital hepatic fibrosis, Cataract, Abnormality of retinal pigmentation, Premature ovarian ins... ORPHA:3156
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Congenital hepatic fibrosis, Cryptorchidism, Displacement of the u... ORPHA:2377
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... ORPHA:170
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Ubiquitin-positive cerebral incl... ORPHA:52430
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Hypogonadism, Retinal coloboma OMIM:601794
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Trisomy 20P
Hypospadias, Thick hair, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Low poster... ORPHA:261318
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,... ORPHA:90790
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, External genital hypoplasi... ORPHA:1867
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles, Ataxia, Cerebral amyloid angiopathy OMIM:117300
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Abnormality of the liver, Cataract, Hypergonadotropic hypogonadism OMIM:614307
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Gerstmann-Straussler Disease
Neurofibrillary tangles, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:137440
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy OMIM:204000
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Ataxia, Cerebral cortical atrophy ORPHA:1020
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Impotence, Cirrhosis, Hepatic steatosis OMIM:606069
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism ORPHA:324410
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Optic atrophy, H... ORPHA:791
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Microcephaly ORPHA:352447
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles, Cerebral cortex with spongiform changes OMIM:606688
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity ORPHA:90654
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Posterior embryotoxon, Iris coloboma ORPHA:1473
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... ORPHA:573
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Niemann-Pick Disease, Type C1
Neurofibrillary tangles, Ataxia, Gait ataxia OMIM:257220
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Thyroid hypoplasia, Increa... ORPHA:90674
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of secondary sexual hair, Abnormality of the testis size, Pre... ORPHA:649929
Myotonic Dystrophy 1
Cataract, Frontal balding, Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Galactosemia I
Hepatomegaly, Cataract, Premature ovarian insufficiency, Elevated circulating aspartate aminotran... OMIM:230400
Carney Complex
Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Abnormal sperm motility, Ovarian se... ORPHA:1359
Barth Syndrome
Abnormal mitochondrial morphology OMIM:302060
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Niemann-Pick Disease, Type C2
Neurofibrillary tangles, Ataxia OMIM:607625
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Alzheimer Disease 4
Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Triploidy
Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the pancreas, Cryptorchi... ORPHA:3376
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Pigmentary retinopathy, Cholestati... ORPHA:79095
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Retinal detachment, Poliosis, Abnormal ... ORPHA:3437
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Precocious puberty, Low anterior hairline, Long eyelashes, Horizontal eyebrow, Macroo... OMIM:619950
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Cataract 47
Microcornea, Cataract OMIM:612018
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Cataract, Thymus hyperplasia, Testicu... ORPHA:744
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Chromosome Xp11.3 Deletion Syndrome
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy OMIM:300578
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Warburg Micro Syndrome 2
Small scrotum, Cataract, Cryptorchidism, Low anterior hairline, Optic atrophy, Developmental cata... OMIM:614225
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Micro... OMIM:610125
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Cataract OMIM:208400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Chronic active hepatitis, Cataract, Premature ovarian insufficiency... OMIM:240300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Lafora Disease
Ataxia, Lafora bodies ORPHA:501
Ifap Syndrome 2
Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair OMIM:619016
Werner Syndrome
Sparse scalp hair, Abnormality of retinal pigmentation, Cataract, Abnormal hair whorl, Decreased ... ORPHA:902
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... OMIM:616468
Myoclonic Epilepsy Of Lafora
Lafora bodies OMIM:254780
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Cataract, Band keratopathy, Asplenia, Hepatitis, Chronic hepatitis, Keratoconjunctiviti... OMIM:269200
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Adult-Onset Dystonia-Parkinsonism
Neurofibrillary tangles, Frontotemporal cerebral atrophy, Generalized cerebral atrophy/hypoplasia ORPHA:199351
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Aspartylglucosaminuria
Splenomegaly, Hepatomegaly, Macroorchidism ORPHA:93
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Supranuclear Palsy, Progressive, 1
Neurofibrillary tangles, Neuronal loss in basal ganglia, Cerebral atrophy, Granulovacuolar degene... OMIM:601104
Supranuclear Palsy, Progressive, 2
Neurofibrillary tangles, Neuronal loss in basal ganglia, Granulovacuolar degeneration OMIM:609454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Meckel Syndrome
Accessory spleen, Cataract, Pancreatic fibrosis, True hermaphroditism, Sclerocornea, Asplenia, Co... ORPHA:564
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... OMIM:612109
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Sympathetic Ophthalmia
Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Retinal hemorrhage, Anterior chamb... ORPHA:79098
Neuroocular Syndrome
Cataract, Brittle hair, Remnants of the hyaloid vascular system, Highly arched eyebrow, Brushfiel... OMIM:619539
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Developmental cataract OMIM:620185
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Septate vagina, Cryptor... OMIM:300166
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma, Anterior pituitary agenesis 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.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2. Human molecular genetics (May 2022) Chchd2tm1c(EUCOMM)Wtsi Chchd2tm1a(EUCOMM)Wtsi 34791217

Order Mouse and ES Cells

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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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