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Gene: Ccdc141 MGI:1919735

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Gene Summary

Name:
coiled-coil domain containing 141
Synonyms:
ENSMUSG00000075261,  2610301F02Rik,  CAMDI

Order Alleles

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
decreased locomotor activity Ccdc141tm1.1(KOMP)Wtsi HOM Early adult 2.75×10-11

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

11 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images
Adult LacZ

LacZ Images Section

37 Images

View images

Human diseases caused by Ccdc141 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 Ccdc141 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Kallmann Syndrome
Gait disturbance, Ataxia ORPHA:478

The table below shows human diseases predicted to be associated to Ccdc141 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microcephaly 9, Primary, Autosomal Recessive
Self-injurious behavior, Aggressive behavior, Motor tics, Compulsive behaviors, Impulsivity, Simp... OMIM:614852
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Motor stereotypy, At... OMIM:618709
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Lissencephaly, Polymicrogyria, Self-mutilation, Abnormality of neuronal migration, Aggressive beh... OMIM:604317
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:615411
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Lissencephaly 1
Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly OMIM:607432
Lissencephaly, X-Linked, 1
Ataxia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Lissencephaly 3
Polymicrogyria, Periventricular laminar heterotopia, Ataxia, Pachygyria, Agyria, Gray matter hete... OMIM:611603
Microlissencephaly
Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ... ORPHA:1083
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Inability to walk, Periventricular nodular heterotopia OMIM:618572
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria ORPHA:101029
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Ataxia ORPHA:1314
Polymicrogyria Due To Tubb2B Mutation
Abnormal temper tantrums, Polymicrogyria, Attention deficit hyperactivity disorder, Pachygyria, G... ORPHA:300573
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Inability to walk, Periventricular heterotopia, Truncal ataxia, Unsteady gait, Simplified gyral p... OMIM:618273
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stereotypical hand wringing... ORPHA:163681
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Depression, Gait disturbance OMIM:300957
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Dysgyria ORPHA:352682
Trichotillomania
Compulsive behaviors, Hair-pulling OMIM:613229
Fragile X Syndrome
Periventricular heterotopia, Recurrent hand flapping, Hyperactivity, Self-biting OMIM:300624
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Congenital Muscular Dystrophy Without Intellectual Disability
Difficulty walking, Gray matter heterotopia, Tip-toe gait, Pachygyria ORPHA:370980
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, Dysphagia, 4-layered lissencephaly ORPHA:89844
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia, Dysphagia OMIM:617008
Glutathionuria
Gray matter heterotopia, Dysdiadochokinesis OMIM:231950
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Lissencephaly 6 With Microcephaly
Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Lissencephaly, Simpl... OMIM:616212
Tetrasomy 18P
Abnormality of neuronal migration, Gait disturbance ORPHA:3307
Li-Ghorbani-Weisz-Hubshman Syndrome
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618974
Lissencephaly 5
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia OMIM:615191
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Periventricular heterotopia, Simplified gyral pattern OMIM:616171
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Polymicrogyria, Gray matter heterotopia, Ataxia OMIM:617201
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria OMIM:608840
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation ORPHA:100924
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria ORPHA:101030
Acalvaria
Abnormality of neuronal migration ORPHA:945
Radio-Tartaglia Syndrome
Gait imbalance, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Ataxia,... OMIM:619312
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Periventricular heterotopia, Irritability, Aggressive behavior, Ataxia OMIM:619833
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Chiari Malformation Type Ii
Gray matter heterotopia, Dysphagia, Ataxia OMIM:207950
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Intellectual Developmental Disorder, Autosomal Dominant 38
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor stereotypy OMIM:616393
Joubert Syndrome 30
Gray matter heterotopia, Polymicrogyria OMIM:617622
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia OMIM:619694
Man1B1-Cdg
Polyphagia, Broad-based gait, Periventricular heterotopia ORPHA:397941
Joubert Syndrome
Abnormality of neuronal migration, Polymicrogyria, Gait disturbance, Ataxia ORPHA:475
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Periventricular heterotopia, I... OMIM:618929
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia, Ataxia ORPHA:255138
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Walker-Warburg Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:899
Periventricular Nodular Heterotopia 9
Broad-based gait, Polymicrogyria, Periventricular nodular heterotopia, Attention deficit hyperact... OMIM:618918
Choreoacanthocytosis
Self-injurious behavior, Phonic tics, Depression, Falls, Head-banging, Bruxism, Emotional labilit... ORPHA:2388
Orofaciodigital Syndrome Xvi
Inability to walk, Gray matter heterotopia, Ataxia OMIM:617563
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Polymicrogyria, Type II lissencephaly, Pachygyria, Subcortical heterotopia, Agyria, Gray matter h... OMIM:614643
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Congenital Muscular Dystrophy With Cerebellar Involvement
Type II lissencephaly, Gray matter heterotopia, Polymicrogyria ORPHA:370959
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Attention deficit hyperactivity disorder, Periventricular heterotopia OMIM:618870
9Q21.13 Microdeletion Syndrome
Difficulty walking, Gray matter heterotopia ORPHA:531151
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Abnormality of neuronal migration, Compulsive behaviors ORPHA:261236
Desmosterolosis
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:35107
Congenital Disorder Of Deglycosylation 2
Gray matter heterotopia, Dysphagia, Polymicrogyria OMIM:619775
Coffin-Lowry Syndrome
Self-injurious behavior, Abnormality of neuronal migration, Gait disturbance ORPHA:192
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Ataxia ORPHA:2318
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Alg11-Cdg
Gray matter heterotopia, Ataxia ORPHA:280071
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Difficulty walking, Inappropriate laughter, Periventricular heterotopia, Ataxia OMIM:618476
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2211
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Gray matter heterotopia, Dysphagia ORPHA:26791
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Emotional lability, Hair-pulling, P... OMIM:620330
Neu-Laxova Syndrome
Abnormal cortical gyration, Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Lissen... ORPHA:2671
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Van Maldergem Syndrome 1
Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero... OMIM:601390
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Bilateral Perisylvian Polymicrogyria
Bilateral perisylvian polymicrogyria, Perisylvian predominant thick cortex pachygyria, Pseudobulb... ORPHA:98889
Koolen-De Vries Syndrome
Gray matter heterotopia, Hyperactivity, Impulsivity OMIM:610443
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria OMIM:617397
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Gait disturbance, Ataxia ORPHA:1454
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Loss of ambulation, Gray matter heterotopia, Unsteady gait, Dysphagia OMIM:214100
Cerebrofacioarticular Syndrome
Self-injurious behavior, Gray matter heterotopia, Ataxia ORPHA:314679
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria ORPHA:2065
6Q Terminal Deletion Syndrome
Polymicrogyria, Periventricular heterotopia, Gait ataxia, Dysmetria, Abnormality of neuronal migr... ORPHA:75857
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Attention deficit hyperactivity disorder, Gait disturbance, Mo... ORPHA:464311
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Gray matter heterotopia, Lissencephaly, Simplified gyral pattern OMIM:615219
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia OMIM:614105
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Polymicrogyria OMIM:608836
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Gait disturbance, Ataxia ORPHA:2754
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:157
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Lissencephaly OMIM:617822
Galloway-Mowat Syndrome 1
Abnormality of neuronal migration, Pachygyria, Ataxia OMIM:251300
Peroxisome Biogenesis Disorder 13A (Zellweger)
Gray matter heterotopia, Polymicrogyria OMIM:614887
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Polymicrogyria, Periventricular heterotopia, Pachygyria, Motor stereotyp... ORPHA:468631
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Pachygyria, Polymicrogyria ORPHA:228308
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Gray matter heterotopia OMIM:620475
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria OMIM:247200
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Dysphagia ORPHA:261250
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia OMIM:608624
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Attention deficit hyperactivity disorder OMIM:305450
Van Maldergem Syndrome 2
Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia OMIM:615546
Neuromuscular Oculoauditory Syndrome
Unsteady gait, Periventricular heterotopia OMIM:618733
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Bruxism ORPHA:453499
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Attention deficit hyperactivity disorder ORPHA:647
Monosomy 22Q13.3
Bruxism, Hyperactivity, Hair-pulling ORPHA:48652
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Pachygyria, Gray matter heterotopia, Frontal polymicrogyria OMIM:620024
Cornelia De Lange Syndrome 6
Compulsive behaviors, Hair-pulling OMIM:620568
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Attention deficit hyperactivity disorder, Polymicrogyria OMIM:618820
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Gray matter heterotopia OMIM:620654
Arima Syndrome
Gray matter heterotopia, Polydipsia, Ataxia OMIM:243910
Vici Syndrome
Gray matter heterotopia, Dysphagia OMIM:242840
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Bruxism, Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Bruxism, Gray matter heterotopia ORPHA:352665
Holoprosencephaly
Abnormality of neuronal migration ORPHA:2162
Aicardi Syndrome
Pachygyria, Gray matter heterotopia, Polymicrogyria OMIM:304050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353277
Orofaciodigital Syndrome I
Gray matter heterotopia, Abnormal cortical gyration OMIM:311200
Smith-Lemli-Opitz Syndrome
Aggressive behavior, Periventricular heterotopia, Hyperactivity, Self-mutilation OMIM:270400
Holoprosencephaly 14
Gray matter heterotopia, Periventricular heterotopia OMIM:619895
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Pachygyria, Polymicrogyria, Microlissencephaly, Gray matter heterotopia OMIM:210710
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Acromelic Frontonasal Dysostosis
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:603671
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Gray matter heterotopia OMIM:615287
Orofaciodigital Syndrome Xiv
Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria OMIM:615948
Genitopatellar Syndrome
Pachygyria, Periventricular heterotopia, Dysphagia OMIM:606170
Hydrolethalus Syndrome 1
Gray matter heterotopia, Abnormal cortical gyration OMIM:236680
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Mowat-Wilson Syndrome
Broad-based gait, Polymicrogyria, Inability to walk, Bruxism, Periventricular heterotopia, Dyspha... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Polymicrogyria, Inability to walk, Bruxism, Periventricular heterotopia, Dyspha... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Polymicrogyria, Inability to walk, Bruxism, Periventricular heterotopia, Dyspha... ORPHA:261552
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Kallmann Syndrome
Gait disturbance, Ataxia ORPHA:478

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 Ccdc141

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 Ccdc141.

No publications found that use IMPC mice or data for Ccdc141.

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
Ccdc141tm1.1(KOMP)Wtsi Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Ccdc141tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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