Gene Summary

Name:
coiled-coil domain containing 88C
Synonyms:
Daple,  0610010D24Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 testis morphology Ccdc88ctm1b(KOMP)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Ccdc88ctm1b(KOMP)Mbp HOM   Early adult 3.65×10-06
small testis Ccdc88ctm1b(KOMP)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Aorta  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 50% (1 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 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 Not available
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
Diaphragm 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
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
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)
Olfactory lobe 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)
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)
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
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
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 Lateral Orientation

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Adult LacZ

LacZ Images Section

67 Images

X-ray

XRay Images Hind Leg and Hip

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Human diseases caused by Ccdc88c 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 Ccdc88c by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Spinocerebellar Ataxia 40
OMIM:616053
Spinocerebellar Ataxia Type 40
ORPHA:423275

The table below shows human diseases predicted to be associated to Ccdc88c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis, Congenital adrenal hypoplasia OMIM:202150
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Tuberculosis
Weight loss ORPHA:3389
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Pulmonary Blastoma
Weight loss ORPHA:64741
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Idiopathic Achalasia
Weight loss ORPHA:930
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Isaac Syndrome
Weight loss ORPHA:84142
Mulibrey Nanism
Cachexia ORPHA:2576
Chronic Hiccup
Weight loss ORPHA:396
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Bilateral cryptorchidism... ORPHA:457083
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Huntington Disease-Like 2
Weight loss ORPHA:98934
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Moynahan Syndrome
Cachexia ORPHA:2574
Focal Myositis
Weight loss ORPHA:48918
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Huntington Disease-Like 2
Weight loss OMIM:606438
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Mast Cell Sarcoma
Weight loss ORPHA:66661
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Myotonic Dystrophy 1
Hypogonadism, Facial diplegia, Testicular atrophy, Cholelithiasis OMIM:160900
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Hodgkin Lymphoma
Weight loss ORPHA:98293
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Perry Syndrome
Weight loss ORPHA:178509
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiolog... OMIM:609136
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Follicular Lymphoma
Weight loss ORPHA:545
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Liposarcoma
Weight loss ORPHA:69078
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Wolfram Syndrome 1
Hypothyroidism, Testicular atrophy, Sensorineural hearing impairment, Diabetes mellitus, Diabetes... OMIM:222300
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Juvenile Huntington Disease
Weight loss ORPHA:248111
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Cap Polyposis
Weight loss ORPHA:160148
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Pleural Mesothelioma
Weight loss ORPHA:50251
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Pfapa Syndrome
Weight loss ORPHA:42642
Bullous Pemphigoid
Weight loss ORPHA:703
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Adult Krabbe Disease
Erectile dysfunction, Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Osteosarcoma
Weight loss ORPHA:668
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Sensorineural hearing imp... OMIM:157640
Cockayne Syndrome Type 1
Cryptorchidism, Male hypogonadism, Macrotia, Hearing impairment, Absent brainstem auditory respon... ORPHA:90321
Thymic Carcinoma
Weight loss ORPHA:99868
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Pemphigus Vulgaris
Weight loss ORPHA:704
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Erectile dysfunction, Abnormal autonomic ... ORPHA:99027
Mcdonough Syndrome
Cachexia ORPHA:2471
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Rhabdoid Tumor
Weight loss ORPHA:69077
Cockayne Syndrome A
Cryptorchidism, Thymic hormone decreased, Irregular menstruation, Abnormality of the pinna, Abnor... OMIM:216400
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Nephroblastoma
Weight loss ORPHA:654
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Christianson Syndrome
Cachexia ORPHA:85278
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
Xfe Progeroid Syndrome
Cachexia OMIM:610965
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Immunodeficiency 27A
Weight loss OMIM:209950
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Huntington Disease-Like 1
Weight loss ORPHA:157941
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Trisomy 10P
Low voltage EEG, Macrotia, Absent gallbladder, EEG with burst suppression, Posteriorly rotated ea... ORPHA:171929
Chronic Beryllium Disease
Weight loss ORPHA:133
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Kaposi Sarcoma
Weight loss ORPHA:33276
Takayasu Arteritis
Weight loss ORPHA:3287
Marburg Hemorrhagic Fever
Weight loss ORPHA:99826
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Klatskin Tumor
Weight loss ORPHA:99978
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Polyarteritis Nodosa
Weight loss ORPHA:767
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Cockayne Syndrome B
Cryptorchidism, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hear... OMIM:133540
Renpenning Syndrome
Cachexia ORPHA:3242
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Leishmaniasis
Weight loss ORPHA:507
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Yao Syndrome
Weight loss OMIM:617321
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Failure to thrive in infancy ORPHA:171876
Cerebrotendinous Xanthomatosis
Hypothyroidism, Abnormal motor evoked potentials, Cholelithiasis, Abnormal auditory evoked potent... ORPHA:909
Rift Valley Fever
Weight loss ORPHA:319251
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Fatal Familial Insomnia
Weight loss OMIM:600072
Rheumatoid Arthritis
Weight loss OMIM:180300
Tetrasomy 12P
Cachexia ORPHA:884
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Oromandibular Dystonia
Weight loss ORPHA:93958
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Mend Syndrome
Cryptorchidism, Abnormal auditory evoked potentials ORPHA:401973
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Wolman Disease
Cachexia ORPHA:75233
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
X-Linked Intellectual Disability, Snyder Type
Small earlobe, Thickened helices, Cryptorchidism, Asymmetry of the ears, Abnormality of the Leydi... ORPHA:3063
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Igg4-Related Aortitis
Weight loss ORPHA:449400
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Perry Syndrome
Weight loss OMIM:168605
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Ménétrier Disease
Weight loss ORPHA:2494
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Aredyld Syndrome
Cachexia ORPHA:1133
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Cryptosporidiosis
Failure to thrive, Weight loss ORPHA:1549
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Gm1 Gangliosidosis
Failure to thrive, Weight loss ORPHA:354
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Short Syndrome
Weight loss ORPHA:3163
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Pneumocystosis
Weight loss ORPHA:723
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive ORPHA:217346
Felty Syndrome
Weight loss ORPHA:47612
8P23.1 Microdeletion Syndrome
Weight loss, Obesity ORPHA:251071
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Polymyositis
Weight loss ORPHA:732
Refractory Celiac Disease
Weight loss ORPHA:398063
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Primary Intestinal Lymphangiectasia
Failure to thrive, Weight loss ORPHA:90362
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss ORPHA:2126
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Silver-Russell Syndrome
Cachexia, Failure to thrive in infancy, Obesity ORPHA:813
Budd-Chiari Syndrome
Weight loss ORPHA:131
Pancreatoblastoma
Weight loss ORPHA:677
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:212750
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Primary Myelofibrosis
Cachexia ORPHA:824
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Drug Rash With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Rett Syndrome
Cachexia OMIM:312750
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Giant Cell Arteritis
Weight loss ORPHA:397
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity ORPHA:85293
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss ORPHA:199299
Cystic Echinococcosis
Weight loss ORPHA:400
Poems Syndrome
Weight loss ORPHA:2905
Pyomyositis
Weight loss ORPHA:764
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Impot... ORPHA:273
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Polycythemia Vera
Weight loss ORPHA:729
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormality of body weight, Increased body weight, Weight loss ORPHA:2298
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Whipple Disease
Cachexia ORPHA:3452
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Lynch Syndrome
Weight loss ORPHA:144
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Al Amyloidosis
Weight loss ORPHA:85443
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Familial Thrombocytosis
Weight loss ORPHA:71493
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Caroli Disease
Weight loss ORPHA:53035
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Alveolar Echinococcosis
Weight loss ORPHA:284
Thyrotoxic Periodic Paralysis
Weight loss, Obesity ORPHA:79102
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Q Fever
Weight loss ORPHA:781
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Riddle Syndrome
Weight loss ORPHA:420741
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Reactive Arthritis
Weight loss ORPHA:29207
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Mucolipidosis Type Ii
Weight loss ORPHA:576
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Malt Lymphoma
Weight loss ORPHA:52417
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Jejunal Neuroendocrine Tumor
Weight loss ORPHA:100077
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Seckel Syndrome
Cachexia ORPHA:808
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Rat-Bite Fever
Weight loss ORPHA:31205
Ppoma
Weight loss ORPHA:97278
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Erdheim-Chester Disease
Weight loss ORPHA:35687
Trisomy 18
Cachexia ORPHA:3380
Schwartz-Jampel Syndrome
Cachexia, Decreased body weight ORPHA:800
Castleman Disease
Weight loss ORPHA:160
Somatostatinoma
Weight loss ORPHA:97283
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Multiple Myeloma
Weight loss ORPHA:29073
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Vipoma
Weight loss ORPHA:97282
Grfoma
Weight loss ORPHA:97261
Fanconi Anemia
Weight loss ORPHA:84
Glucagonoma
Weight loss ORPHA:97280
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Parathyroid Carcinoma
Weight loss ORPHA:143
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Brucellosis
Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Weight loss ORPHA:99889
Dermatomyositis
Weight loss ORPHA:221
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Nocardiosis
Weight loss ORPHA:31204
Hepatocellular Carcinoma
Weight loss ORPHA:88673
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Multiple Endocrine Neoplasia Type 1
Weight loss ORPHA:652
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Behçet Disease
Weight loss ORPHA:117
Cockayne Syndrome
Cachexia ORPHA:191
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia ORPHA:2072
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
Camurati-Engelmann Disease
Slender build, Cachexia ORPHA:1328
African Trypanosomiasis
Weight loss ORPHA:3385
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Choreoacanthocytosis
Weight loss ORPHA:2388
Sarcoidosis
Weight loss ORPHA:797
Proteus Syndrome
Cachexia ORPHA:744
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450
Norrie Disease
Cachexia, Failure to thrive ORPHA:649
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Spinocerebellar Ataxia Type 40
ORPHA:423275
Spinocerebellar Ataxia 40
OMIM:616053

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 Ccdc88c

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 Ccdc88c.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Daple deficiency causes hearing loss in adult mice by inducing defects in cochlear stereocilia and apical microtubules. Scientific reports (October 2021) Ccdc88ctm1(KOMP)Mbp PMC8511111
EMX2-GPR156-Gαi reverses hair cell orientation in mechanosensory epithelia. Nature communications (May 2021) Ccdc88ctm1.1(KOMP)Mbp PMC8129141
Cytoplasmic Dynein Functions in Planar Polarization of Basal Bodies within Ciliated Cells. iScience (June 2020) Ccdc88ctm1(KOMP)Mbp PMC7300155
Daple coordinates organ-wide and cell-intrinsic polarity to pattern inner-ear hair bundles. Proceedings of the National Academy of Sciences of the United States of America (December 2017) Ccdc88ctm1(KOMP)Mbp Ccdc88ctm1.1(KOMP)Mbp PMC5748220
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Ccdc88ctm1b(KOMP)Mbp PMC5638796
Daple Coordinates Planar Polarized Microtubule Dynamics in Ependymal Cells and Contributes to Hydrocephalus. Cell reports (July 2017) Ccdc88ctm1(KOMP)Mbp 28746879

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MGI Allele Allele Type Produced
Ccdc88ctm439683(L1L2_Bact_P) Targeting vectors
Ccdc88ctm1b(KOMP)Mbp Reporter-tagged deletion allele (post-Cre) Mice, Tissue
Ccdc88ctm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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