Gene: Chchd1 MGI:1913371
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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 forebrain development | Chchd1tm1.1(KOMP)Vlcg | HOM | E9.5 | 0.00 | ||
pale yolk sac | Chchd1tm1.1(KOMP)Vlcg | HOM | E12.5 | 0.00 | ||
preweaning lethality, complete penetrance | Chchd1tm1.1(KOMP)Vlcg | HOM | Early adult | 0.00 | ||
embryonic growth retardation | Chchd1tm1.1(KOMP)Vlcg | HOM | E9.5 | 0.00 | ||
abnormal midbrain development | Chchd1tm1.1(KOMP)Vlcg | HOM | E9.5 | 0.00 | ||
abnormal neural tube closure | Chchd1tm1.1(KOMP)Vlcg | HOM | E9.5 | 0.00 | ||
pallor | Chchd1tm1.1(KOMP)Vlcg | HOM | E12.5 | 0.00 | ||
abnormal embryo size | Chchd1tm1.1(KOMP)Vlcg | HOM | E12.5 | 0.00 | ||
abnormal hindbrain development | Chchd1tm1.1(KOMP)Vlcg | HOM | E9.5 | 0.00 | ||
abnormal embryo size | Chchd1tm1.1(KOMP)Vlcg | HOM | E9.5 | 0.00 |
An assay measuring the expression of lacZ shows the tissue where the gene is expressed.
Anatomy | Images | Zygosity | Mutant Expr |
---|---|---|---|
Axial skeleton | N/A | heterozygote | 0.0% (0 of 2) |
Brain | N/A | heterozygote | 100% (2 of 2) |
Central nervous system ganglion | N/A | heterozygote | 0.0% (0 of 2) |
Ear | N/A | heterozygote | 0.0% (0 of 2) |
Embryo | N/A | heterozygote | 100% (2 of 2) |
Eye | N/A | heterozygote | 100% (2 of 2) |
Footplate | N/A | heterozygote | 0.0% (0 of 2) |
Forebrain | N/A | heterozygote | 100% (2 of 2) |
Forelimb | N/A | heterozygote | 0.0% (0 of 2) |
Gut | N/A | heterozygote | 100% (2 of 2) |
Handplate | N/A | heterozygote | 0.0% (0 of 2) |
Head | N/A | heterozygote | 100% (2 of 2) |
Heart | N/A | heterozygote | 100% (2 of 2) |
Hindbrain | N/A | heterozygote | 100% (2 of 2) |
Hindlimb | N/A | heterozygote | 0.0% (0 of 2) |
Liver | N/A | heterozygote | 100% (2 of 2) |
Lung | N/A | heterozygote | 0.0% (0 of 2) |
Mandibular process | N/A | heterozygote | 0.0% (0 of 2) |
Maxillary process | N/A | heterozygote | 0.0% (0 of 2) |
Midbrain | N/A | heterozygote | 100% (2 of 2) |
Nose | N/A | heterozygote | 0.0% (0 of 2) |
Oral cavity | N/A | heterozygote | 0.0% (0 of 2) |
Skeleton | N/A | heterozygote | 0.0% (0 of 2) |
Skin | N/A | heterozygote | 0.0% (0 of 2) |
Spinal cord | N/A | heterozygote | 100% (2 of 2) |
Tail somite | N/A | heterozygote | 0.0% (0 of 2) |
Tail | N/A | heterozygote | 0.0% (0 of 2) |
Trachea | N/A | heterozygote | 0.0% (0 of 2) |
Urinary system | N/A | heterozygote | 100% (2 of 2) |
Background staining occurs in wild type mice and embryos at an incidental rate.
Anatomy | Background staining in controls (WT) |
---|
Background staining occurs in wild type mice and embryos at an incidental rate.
Background staining occurs in wild type embryos at a measurable rate.
Anatomy | Background staining in controls(WT) |
---|---|
axial skeleton | Ambiguous |
brain | 0.0% |
central nervous system ganglion | Ambiguous |
ear | 0.0% |
embryo | 0.0% |
eye | 0.0% |
footplate | 0.0% |
forebrain | 0.0% |
forelimb | 0.0% |
gut | Ambiguous |
handplate | 0.0% |
head | 0.0% |
heart | 0.0% |
hindbrain | 0.0% |
hindlimb | 0.0% |
liver | 0.0% |
lung | 0.0% |
mandibular process | 0.0% |
maxillary process | 0.0% |
midbrain | 0.0% |
nose | Ambiguous |
oral cavity | 0.0% |
skeleton | Ambiguous |
skin | 0.0% |
spinal cord | Ambiguous |
tail | 0.0% |
tail somite group | 0.0% |
trachea | Ambiguous |
urinary system | Ambiguous |
Human diseases caused by Chchd1 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 predicted to be associated to Chchd1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 | Neural tube defect | OMIM:615041 | |
Neural Tube Defects, Folate-Sensitive | Spinal dysraphism | OMIM:601634 | |
Myelopathy, Htlv-1-Associated | Myelopathy | OMIM:159580 | |
Spina Bifida-Hypospadias Syndrome | Spina bifida, Spinal dysraphism | ORPHA:3176 | |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome | Pallor | ORPHA:46532 | |
Methylmalonic Acidemia With Homocystinuria, Type Cbld | Pallor | ORPHA:79283 | |
Peripheral Cone Dystrophy | Pallor | OMIM:609021 | |
Cone-Rod Dystrophy 11 | Pallor | OMIM:610381 | |
Hb Bart'S Hydrops Fetalis | Hydrocephalus, Pallor | ORPHA:163596 | |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome | Short stature, Pallor | ORPHA:2786 | |
Aplasia Cutis Congenita | Skin ulcer, Spinal dysraphism | ORPHA:1114 | |
Anencephaly 1 | Anencephaly, Spina bifida | OMIM:206500 | |
Optic Atrophy 1 | Pallor | OMIM:165500 | |
Dermatitis, Atopic | Dry skin, Pallor, Facial erythema | OMIM:603165 | |
Acute Peripheral Arterial Occlusion | Pallor | ORPHA:90064 | |
Benign Paroxysmal Torticollis Of Infancy | Pallor | ORPHA:71518 | |
Breath-Holding Spells | Pallor | OMIM:607578 | |
Fryns Microphthalmia Syndrome | Neural tube defect | OMIM:600776 | |
Leber Congenital Amaurosis 14 | Pallor | OMIM:613341 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | Growth delay, Pallor | OMIM:613561 | |
Acute Myelomonocytic Leukemia | Pallor | ORPHA:517 | |
Optic Atrophy 7 With Or Without Auditory Neuropathy | Pallor | OMIM:612989 | |
Hemoglobin D Disease | Pallor | ORPHA:90039 | |
Aprosencephaly Syndrome | Aprosencephaly, Anencephaly | OMIM:207770 | |
Primary Lateral Sclerosis, Juvenile | Pallor | OMIM:606353 | |
Familial Focal Epilepsy With Variable Foci | Pallor | ORPHA:98820 | |
X-Linked Sideroblastic Anemia | Pallor | ORPHA:75563 | |
Anemia, Congenital Dyserythropoietic, Type Ib | Growth delay, Short stature, Pallor | OMIM:615631 | |
Cyclic Vomiting Syndrome | Growth delay, Pallor | OMIM:500007 | |
Thiamine-Responsive Megaloblastic Anemia Syndrome | Short stature, Pallor | ORPHA:49827 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Pallor | ORPHA:276608 | |
Congenital Heart Block | Intrauterine growth retardation, Pallor | ORPHA:60041 | |
Spontaneous Periodic Hypothermia | Pallor | ORPHA:29822 | |
Aminopterin/Methotrexate Embryofetopathy | Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... | ORPHA:1908 | |
Craniorachischisis | Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism | ORPHA:63260 | |
Retinitis Pigmentosa 51 | Pallor | OMIM:613464 | |
Hyperinsulinism Due To Ucp2 Deficiency | Pallor | ORPHA:276556 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Pallor | ORPHA:276575 | |
Evans Syndrome | Pallor, Petechiae | ORPHA:1959 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Pallor | ORPHA:276580 | |
Hyperinsulinism Due To Hnf1A Deficiency | Pallor | ORPHA:324575 | |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | Short stature, Pallor | OMIM:611590 | |
Blepharocheilodontic Syndrome 1 | Neural tube defect | OMIM:119580 | |
Isolated Posterior Meningocele | Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele | ORPHA:268810 | |
Pyruvate Kinase Deficiency Of Red Cells | Intrauterine growth retardation, Pallor | OMIM:266200 | |
Fanconi Anemia, Complementation Group I | Intrauterine growth retardation, Short stature, Pallor | OMIM:609053 | |
Myopathic Ehlers-Danlos Syndrome | Pallor | ORPHA:536516 | |
Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:848 | |
Anemia, Hypochromic Microcytic, With Iron Overload 2 | Growth delay, Pallor | OMIM:615234 | |
Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
Myelofibrosis | Pallor, Purpura | OMIM:254450 | |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 | Growth delay, Pallor, Delayed puberty | OMIM:600462 | |
Irida Syndrome | Pallor | ORPHA:209981 | |
Dravet Syndrome | Pallor | ORPHA:33069 | |
Primary Myelofibrosis | Ecchymosis, Pallor, Petechiae, Purpura | ORPHA:824 | |
Non-Functioning Paraganglioma | Pallor | ORPHA:94080 | |
Kcnq2-Related Epileptic Encephalopathy | Pallor, Facial erythema | ORPHA:439218 | |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | Pallor | OMIM:613839 | |
Drug-Induced Autoimmune Hemolytic Anemia | Pallor | ORPHA:90037 | |
Cold Agglutinin Disease | Pallor | ORPHA:56425 | |
Deafness-Lymphedema-Leukemia Syndrome | Pallor | ORPHA:3226 | |
Anemia, Sideroblastic, 1 | Anemic pallor | OMIM:300751 | |
Retinitis Pigmentosa 75 | Pallor | OMIM:617023 | |
Acquired Idiopathic Sideroblastic Anemia | Pallor | ORPHA:75564 | |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency | Pallor | OMIM:246450 | |
Mixed-Type Autoimmune Hemolytic Anemia | Pallor | ORPHA:90036 | |
Congenital Dyserythropoietic Anemia Type Iii | Short stature, Pallor | ORPHA:98870 | |
Alg3-Cdg | Neural tube defect | ORPHA:79321 | |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | Pallor | ORPHA:13 | |
Myopathy, Mitochondrial, And Ataxia | Growth delay, Short stature, Pallor | OMIM:617675 | |
Rheumatic Fever | Erythema, Pallor | ORPHA:3099 | |
Idiopathic Pulmonary Hemosiderosis | Pallor | ORPHA:99931 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Pallor | ORPHA:263455 | |
Cone-Rod Dystrophy 8 | Pallor | OMIM:605549 | |
Elliptocytosis 1 | Pallor | OMIM:611804 | |
Tay-Sachs Disease | Pallor | OMIM:272800 | |
American Trypanosomiasis | Pallor | ORPHA:3386 | |
Hereditary Spherocytosis | Growth delay, Pallor, Skin ulcer | ORPHA:822 | |
Autoimmune Hemolytic Anemia, Warm Type | Pallor | ORPHA:90033 | |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts | Growth delay, Pallor | ORPHA:300298 | |
Dominant Beta-Thalassemia | Growth delay, Pallor, Skin ulcer, Delayed puberty | ORPHA:231226 | |
Senior-Loken Syndrome 8 | Pallor | OMIM:616307 | |
Plummer-Vinson Syndrome | Pallor | ORPHA:54028 | |
Sacral Defect With Anterior Meningocele | Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract | OMIM:600145 | |
Childhood Absence Epilepsy | Pallor | ORPHA:64280 | |
Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
Letterer-Siwe Disease | Pallor | OMIM:246400 | |
Iniencephaly | Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... | ORPHA:63259 | |
Histiocytoid Cardiomyopathy | Hydrocephalus, Pallor | ORPHA:137675 | |
Autosomal Recessive Malignant Osteopetrosis | Growth delay, Hydrocephalus, Pallor | ORPHA:667 | |
Sepsis In Premature Infants | Pallor, Petechiae, Purpura | ORPHA:90051 | |
Hereditary Folate Malabsorption | Pallor | ORPHA:90045 | |
Fructose-1,6-Bisphosphatase Deficiency | Pallor | ORPHA:348 | |
Diamond-Blackfan Anemia 1 | Intrauterine growth retardation, Spina bifida occulta, Short stature, Pallor | OMIM:105650 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Pallor | ORPHA:276621 | |
Beta-Thalassemia Major | Growth delay, Pallor, Skin ulcer, Delayed puberty | ORPHA:231214 | |
Beta-Ketothiolase Deficiency | Pallor | ORPHA:134 | |
Waldenström Macroglobulinemia | Pallor, Purpura | ORPHA:33226 | |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency | Pallor | ORPHA:331206 | |
Non-Functioning Pituitary Adenoma | Pallor | ORPHA:91349 | |
Prolactinoma | Pallor, Delayed puberty | ORPHA:2965 | |
Imerslund-Gräsbeck Syndrome | Pallor | ORPHA:35858 | |
Fanconi Anemia, Complementation Group D2 | Hydrocephalus, Anemic pallor, Short stature | OMIM:227646 | |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli | Growth delay, Anemic pallor | ORPHA:329971 | |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema | Pallor | OMIM:194380 | |
Adenohypophysitis | Pallor | ORPHA:95512 | |
Aregenerative Anemia | Pallor | ORPHA:101096 | |
3-Hydroxy-3-Methylglutaric Aciduria | Pallor | ORPHA:20 | |
Incontinentia Pigmenti | Erythema, Short stature, Pallor | OMIM:308300 | |
Panhypophysitis | Pallor | ORPHA:95513 | |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency | Pallor | OMIM:300908 | |
Sheehan Syndrome | Dry skin, Pallor | ORPHA:91355 | |
Pituitary Apoplexy | Pallor | ORPHA:95613 | |
Retinitis Pigmentosa And Erythrocytic Microcytosis | Pallor | OMIM:616959 | |
Hereditary Pheochromocytoma-Paraganglioma | Pallor | ORPHA:29072 | |
Systemic Mastocytosis With Associated Hematologic Neoplasm | Pallor | ORPHA:98849 | |
Fanconi Anemia, Complementation Group C | Intrauterine growth retardation, Anemic pallor, Short stature | OMIM:227645 | |
Refractory Anemia With Excess Blasts | Anemic pallor | ORPHA:86839 | |
Fumarase Deficiency | Pallor | OMIM:606812 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Hydrocephalus, Pallor | OMIM:253280 | |
Alternating Hemiplegia Of Childhood | Pallor | ORPHA:2131 | |
Aprosencephaly And Cerebellar Dysgenesis | Aprosencephaly | OMIM:601374 | |
Pearson Marrow-Pancreas Syndrome | Erythema, Pallor | OMIM:557000 | |
Esophageal Atresia | Growth delay, Pallor | ORPHA:1199 | |
Fanconi Anemia, Complementation Group E | Anemic pallor, Short stature | OMIM:600901 | |
Fanconi Anemia, Complementation Group A | Anemic pallor, Short stature | OMIM:227650 | |
Degcags Syndrome | Intrauterine growth retardation, Pallor | OMIM:619488 | |
Tsh-Secreting Pituitary Adenoma | Pallor, Delayed puberty | ORPHA:91347 | |
Idiopathic Hypereosinophilic Syndrome | Pallor | ORPHA:3260 | |
Diamond-Blackfan Anemia | Growth delay, Short stature, Pallor | ORPHA:124 | |
Infection-Related Hemolytic Uremic Syndrome | Pallor | ORPHA:544482 | |
Multiple Endocrine Neoplasia Type 2 | Pallor | ORPHA:653 | |
Von Hippel-Lindau Disease | Pallor | ORPHA:892 | |
Semilobar Holoprosencephaly | Growth delay, Neural tube defect, Hydrocephalus, Short stature | ORPHA:220386 | |
Alobar Holoprosencephaly | Growth delay, Neural tube defect, Hydrocephalus, Short stature | ORPHA:93925 | |
Midline Interhemispheric Variant Of Holoprosencephaly | Growth delay, Neural tube defect, Hydrocephalus, Short stature | ORPHA:93926 | |
Lobar Holoprosencephaly | Growth delay, Neural tube defect, Hydrocephalus, Short stature | ORPHA:93924 | |
Schinzel-Giedion Syndrome | Umbilical hernia, Neural tube defect | ORPHA:798 | |
Goodpasture Syndrome | Pallor | OMIM:233450 | |
Congenital Total Pulmonary Venous Return Anomaly | Pallor | ORPHA:99125 |
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 Chchd1
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 Chchd1.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Early death of ALS-linked CHCHD10-R15L transgenic mice with central nervous system, skeletal muscle, and cardiac pathology. | iScience (January 2021) | Chchd10tm1(KOMP)Vlcg | PMC7890413 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Chchd1tm1.1(KOMP)Vlcg | Reporter-tagged deletion allele (post Cre, with no selection cassette) | Mice, Tissue |
Chchd1tm214240(L1L2_Bact_P) | Reporter-tagged deletion allele (with selection cassette) | Targeting vectors |
Chchd1tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | Mice, ES Cells |
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