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Gene: Ccdc88c MGI:1915589

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Gene Summary

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

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
abnormal auditory brainstem response Ccdc88ctm1.1(KOMP)Mbp HOM   Early adult 2.90×10-06
small testis Ccdc88ctm1.1(KOMP)Mbp HOM Early adult 0.00
abnormal testis morphology Ccdc88ctm1.1(KOMP)Mbp HOM Early adult 0.00

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
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 50% (1 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
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 50% (1 of 2)
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 100% (2 of 2)
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 0.0%
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 Lateral Orientation

8 Images

View images
Adult LacZ

LacZ Images Section

67 Images

View images
X-ray

XRay Images Forepaw

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

8 Images

View images
X-ray

XRay Images Hind Leg and Hip

8 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

View 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
Hydrocephalus, Ventriculomegaly 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 Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Tuberculosis
Weight loss ORPHA:3389
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Pulmonary Blastoma
Weight loss ORPHA:64741
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Idiopathic Achalasia
Weight loss ORPHA:930
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Chronic Hiccup
Weight loss ORPHA:396
Isaacs Syndrome
Weight loss ORPHA:84142
Mulibrey Nanism
Cachexia ORPHA:2576
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Huntington Disease-Like 2
Weight loss ORPHA:98934
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Focal Myositis
Weight loss ORPHA:48918
Moynahan Syndrome
Cachexia ORPHA:2574
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Low-set ears OMIM:601163
Huntington Disease-Like 2
Weight loss OMIM:606438
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Mast Cell Sarcoma
Weight loss ORPHA:66661
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Facial diplegia, Testicular atrophy OMIM:160900
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Perry Syndrome
Weight loss ORPHA:178509
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Follicular Lymphoma
Weight loss ORPHA:545
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Liposarcoma
Weight loss ORPHA:69078
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Pleural Mesothelioma
Weight loss ORPHA:50251
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Cap Polyposis
Weight loss ORPHA:160148
Juvenile Huntington Disease
Weight loss ORPHA:248111
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Pfapa Syndrome
Weight loss ORPHA:42642
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, Hypothyro... OMIM:222300
Bullous Pemphigoid
Weight loss ORPHA:703
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Pemphigus Vulgaris
Weight loss ORPHA:704
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... ORPHA:79330
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Large e... OMIM:305400
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cryptorchidism, Optic atrophy, Male hypogonadism, Macrotia, ... ORPHA:90321
Osteosarcoma
Weight loss ORPHA:668
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Thymic Carcinoma
Weight loss ORPHA:99868
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction ORPHA:206448
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Mcdonough Syndrome
Cachexia ORPHA:2471
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Rhabdoid Tumor
Weight loss ORPHA:69077
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Nephroblastoma
Weight loss ORPHA:654
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Christianson Syndrome
Cachexia ORPHA:85278
Immunodeficiency 27A
Weight loss OMIM:209950
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Huntington Disease-Like 1
Weight loss ORPHA:157941
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Chronic Beryllium Disease
Weight loss ORPHA:133
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Sensorineural hear... OMIM:157640
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Takayasu Arteritis
Weight loss ORPHA:3287
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... ORPHA:171929
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Renpenning Syndrome
Cachexia ORPHA:3242
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Polyarteritis Nodosa
Weight loss ORPHA:767
Kaposi Sarcoma
Weight loss ORPHA:33276
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Leishmaniasis
Weight loss ORPHA:507
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Klatskin Tumor
Weight loss ORPHA:99978
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Yao Syndrome
Weight loss OMIM:617321
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Rheumatoid Arthritis
Weight loss OMIM:180300
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Mend Syndrome
Cryptorchidism, Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Tetrasomy 12P
Cachexia ORPHA:884
Fatal Familial Insomnia
Weight loss OMIM:600072
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Oromandibular Dystonia
Weight loss ORPHA:93958
Perry Syndrome
Weight loss OMIM:168605
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Wolman Disease
Cachexia ORPHA:75233
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Asymmetry of the ears, Cryptorchidism, Cupped ear, EEG abnormality, Abnormality of t... ORPHA:3063
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Ménétrier Disease
Weight loss ORPHA:2494
Igg4-Related Aortitis
Weight loss ORPHA:449400
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Loeffler Endocarditis
Weight loss ORPHA:75566
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Gm1 Gangliosidosis
Failure to thrive, Weight loss ORPHA:354
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Aredyld Syndrome
Cachexia ORPHA:1133
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Pneumocystosis
Weight loss ORPHA:723
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Felty Syndrome
Weight loss ORPHA:47612
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Short Syndrome
Weight loss ORPHA:3163
Refractory Celiac Disease
Weight loss ORPHA:398063
Polymyositis
Weight loss ORPHA:732
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Budd-Chiari Syndrome
Weight loss ORPHA:131
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Aicardi-Goutieres Syndrome 9
Failure to thrive, Weight loss OMIM:619487
Pancreatoblastoma
Weight loss ORPHA:677
Celiac Disease, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:212750
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Primary Myelofibrosis
Cachexia ORPHA:824
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Rett Syndrome
Cachexia OMIM:312750
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Peripheral Primitive Neuroectodermal Tumor
Weight loss ORPHA:370348
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Giant Cell Arteritis
Weight loss ORPHA:397
Pyomyositis
Weight loss ORPHA:764
Thymoma
Weight loss ORPHA:99867
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss ORPHA:199299
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss ORPHA:85450
Cystic Echinococcosis
Weight loss ORPHA:400
Tropical Pancreatitis
Weight loss ORPHA:103918
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Primary Hepatic Neuroendocrine Carcinoma
Weight loss ORPHA:100085
Polycythemia Vera
Weight loss ORPHA:729
Poems Syndrome
Weight loss ORPHA:2905
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Al Amyloidosis
Weight loss ORPHA:85443
Lynch Syndrome
Weight loss ORPHA:144
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Whipple Disease
Cachexia ORPHA:3452
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Familial Thrombocytosis
Weight loss ORPHA:71493
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Caroli Disease
Weight loss ORPHA:53035
Malt Lymphoma
Weight loss ORPHA:52417
Q Fever
Weight loss ORPHA:781
Castleman Disease
Weight loss ORPHA:160
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Familial Pancreatic Carcinoma
Weight loss ORPHA:1333
Igg4-Related Retroperitoneal Fibrosis
Weight loss ORPHA:49041
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Alveolar Echinococcosis
Weight loss ORPHA:284
Hermansky-Pudlak Syndrome
Weight loss ORPHA:79430
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Riddle Syndrome
Weight loss ORPHA:420741
Erdheim-Chester Disease
Weight loss ORPHA:35687
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Seckel Syndrome
Cachexia ORPHA:808
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Multiple Myeloma
Weight loss ORPHA:29073
Microsporidiosis
Cachexia, Weight loss ORPHA:2552
Mucolipidosis Type Ii
Weight loss ORPHA:576
Immunodeficiency 31C
Weight loss OMIM:614162
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Trisomy 18
Cachexia ORPHA:3380
Reactive Arthritis
Weight loss ORPHA:29207
Schwartz-Jampel Syndrome
Cachexia, Decreased body weight ORPHA:800
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Rat-Bite Fever
Weight loss ORPHA:31205
Addison Disease
Failure to thrive, Weight loss ORPHA:85138
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Aicardi-Goutieres Syndrome 7
Weight loss OMIM:615846
Ppoma
Weight loss ORPHA:97278
Brucellosis
Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Primary Sclerosing Cholangitis
Weight loss ORPHA:171
Fanconi Anemia
Weight loss ORPHA:84
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Somatostatinoma
Weight loss ORPHA:97283
Parathyroid Carcinoma
Weight loss ORPHA:143
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss OMIM:219800
Zollinger-Ellison Syndrome
Weight loss ORPHA:913
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Grfoma
Weight loss ORPHA:97261
Vipoma
Weight loss ORPHA:97282
Glucagonoma
Weight loss ORPHA:97280
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Postinfectious Vasculitis
Weight loss ORPHA:48435
Dermatomyositis
Weight loss ORPHA:221
Behçet Disease
Weight loss ORPHA:117
Juvenile Polyposis Of Infancy
Cachexia ORPHA:79076
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Nocardiosis
Weight loss ORPHA:31204
Igg4-Related Dacryoadenitis And Sialadenitis
Weight loss ORPHA:79078
Multiple Endocrine Neoplasia Type 1
Weight loss ORPHA:652
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Weight loss ORPHA:90794
Sarcoidosis, Susceptibility To, 1
Weight loss OMIM:181000
Cockayne Syndrome
Cachexia ORPHA:191
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Camurati-Engelmann Disease
Slender build, Cachexia ORPHA:1328
Kikuchi-Fujimoto Disease
Weight loss ORPHA:50918
Igg4-Related Kidney Disease
Weight loss ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation
Weight loss OMIM:619381
Choreoacanthocytosis
Weight loss ORPHA:2388
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia ORPHA:2072
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss ORPHA:99889
Sarcoidosis
Weight loss ORPHA:797
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
African Trypanosomiasis
Weight loss ORPHA:3385
Proteus Syndrome
Cachexia ORPHA:744
Goodpasture Syndrome
Weight loss OMIM:233450
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Spinocerebellar Ataxia 40
OMIM:616053
Spinocerebellar Ataxia Type 40
ORPHA:423275

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 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
RGS12 polarizes the GPSM2-GNAI complex to organize and elongate stereocilia in sensory hair cells. Science advances (October 2022) Ccdc88ctm1(KOMP)Mbp PMC9581478
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
Planar cell polarity induces local microtubule bundling for coordinated ciliary beating. The Journal of cell biology (July 2021) Ccdc88ctm1(KOMP)Mbp 33929515
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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ccdc88ctm439683(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ccdc88ctm1.1(KOMP)Mbp Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Ccdc88ctm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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