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Gene: Chchd1 MGI:1913371

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Gene Summary

Name:
coiled-coil-helix-coiled-coil-helix domain containing 1
Synonyms:
1110001O19Rik,  2400010G13Rik

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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 forebrain development Chchd1tm1.1(KOMP)Vlcg HOM E9.5 0.00
embryonic growth retardation Chchd1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo size Chchd1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal neural tube closure Chchd1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo size Chchd1tm1.1(KOMP)Vlcg HOM E12.5 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
abnormal midbrain development Chchd1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal hindbrain development Chchd1tm1.1(KOMP)Vlcg HOM E9.5 0.00
pallor Chchd1tm1.1(KOMP)Vlcg HOM E12.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

No Adult expression data was found for this gene.

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

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
OPT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

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.

No human diseases associated to this gene by orthology or annotation.

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
Spinal dysraphism, Spina bifida 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
Pallor, Hydrocephalus ORPHA:163596
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Aplasia Cutis Congenita
Erythema, Spinal dysraphism, Skin ulcer ORPHA:1114
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Breath-Holding Spells
Pallor OMIM:607578
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Optic Atrophy 1
Pallor OMIM:165500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Pallor OMIM:613561
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hemoglobin D Disease
Pallor ORPHA:90039
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Ib
Short stature, Growth delay, 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
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Short stature, ... ORPHA:1908
Retinitis Pigmentosa 51
Pallor OMIM:613464
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor OMIM:611590
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Fanconi Anemia, Complementation Group I
Short stature, Intrauterine growth retardation, Pallor OMIM:609053
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Pallor, Growth delay OMIM:600462
Dravet Syndrome
Pallor ORPHA:33069
Primary Myelofibrosis
Purpura, Petechiae, Pallor, Ecchymosis ORPHA:824
Irida Syndrome
Pallor ORPHA:209981
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Anemia, Hypochromic Microcytic, With Iron Overload 2
Growth delay, Pallor OMIM:615234
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Cold Agglutinin Disease
Pallor ORPHA:56425
Myelofibrosis
Purpura, Pallor OMIM:254450
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Retinitis Pigmentosa 75
Pallor OMIM:617023
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor ORPHA:98870
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Short stature, Intrauterine growth retardation, Pallor OMIM:301310
Alg3-Cdg
Neural tube defect ORPHA:79321
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor OMIM:617675
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Cone-Rod Dystrophy 8
Pallor OMIM:605549
American Trypanosomiasis
Pallor ORPHA:3386
Tay-Sachs Disease
Pallor OMIM:272800
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Elliptocytosis 1
Pallor OMIM:611804
Hereditary Spherocytosis
Growth delay, Skin ulcer, Pallor ORPHA:822
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor, Hydrocephalus OMIM:277400
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Dominant Beta-Thalassemia
Delayed puberty, Skin ulcer, Pallor, Growth delay ORPHA:231226
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Pallor ORPHA:300298
Senior-Loken Syndrome 8
Pallor OMIM:616307
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holo... ORPHA:63259
Histiocytoid Cardiomyopathy
Pallor, Hydrocephalus ORPHA:137675
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Sepsis In Premature Infants
Purpura, Petechiae, Pallor ORPHA:90051
Letterer-Siwe Disease
Pallor OMIM:246400
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Hydrocephalus, Pallor ORPHA:667
Beta-Thalassemia Major
Delayed puberty, Skin ulcer, Pallor, Growth delay ORPHA:231214
Diamond-Blackfan Anemia 1
Short stature, Spina bifida occulta, Intrauterine growth retardation, Pallor OMIM:105650
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Waldenström Macroglobulinemia
Purpura, Pallor ORPHA:33226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Fanconi Anemia, Complementation Group D2
Short stature, Anemic pallor, Hydrocephalus OMIM:227646
Adenohypophysitis
Pallor ORPHA:95512
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay ORPHA:329971
Aregenerative Anemia
Pallor ORPHA:101096
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Prolactinoma
Delayed puberty, Pallor ORPHA:2965
Panhypophysitis
Pallor ORPHA:95513
Incontinentia Pigmenti
Short stature, Erythema, Pallor OMIM:308300
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Fumarase Deficiency
Pallor OMIM:606812
Fanconi Anemia, Complementation Group C
Short stature, Intrauterine growth retardation, Anemic pallor OMIM:227645
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Hydrocephalus OMIM:253280
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Esophageal Atresia
Growth delay, Pallor ORPHA:1199
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor OMIM:600901
Fanconi Anemia, Complementation Group A
Short stature, Anemic pallor OMIM:227650
Degcags Syndrome
Intrauterine growth retardation, Pallor OMIM:619488
Neuroblastoma
Anemic pallor ORPHA:635
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Pallor ORPHA:91347
Diamond-Blackfan Anemia
Short stature, Growth delay, 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
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:93924
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia 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

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
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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