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Gene: Ccdc25 MGI:1914429

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Gene Summary

Name:
coiled-coil domain containing 25
Synonyms:
2610528H13Rik

Order Alleles

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
small spleen Ccdc25em1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Ccdc25em1(IMPC)Mbp HET E18.5 0.00
impaired glucose tolerance Ccdc25em1(IMPC)Mbp HET Early adult 3.72×10-10
abnormal retina morphology Ccdc25em1(IMPC)Mbp HET   Early adult 6.70×10-05
absent optic nerve Ccdc25em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta vasculature Ccdc25em1(IMPC)Mbp HOM E18.5 0.00
preweaning lethality, incomplete penetrance Ccdc25em1(IMPC)Mbp HOM Early adult 0.00
no spontaneous movement Ccdc25em1(IMPC)Mbp HOM E18.5 0.00
abnormal placenta morphology Ccdc25em1(IMPC)Mbp HOM E18.5 0.00
abnormal vitreous body morphology Ccdc25em1(IMPC)Mbp HET Early adult 2.24×10-05
cataract Ccdc25em1(IMPC)Mbp HET Early adult 2.55×10-05

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lacZ Expression

Expression data not available

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

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E18.5

Images

1 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Ccdc25 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Ccdc25 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Microphthalmia/Coloboma 12
Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Ch... OMIM:120200
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy, Abnormal oral glucose tolerance OMIM:311100
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613801
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Retinal dystrophy, Microcornea, Remnants of the hyaloid vas... ORPHA:231736
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Impaired glucose tolerance, Insulinoma, Developmental cataract, Type II d... OMIM:147630
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Optic disc drusen, Cystoid... OMIM:611040
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation, Astigmatism OMIM:300843
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed... OMIM:600059
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes m... ORPHA:65288
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Exudative Vitreoretinopathy 5
Retinal exudate, Shallow anterior chamber, Tractional retinal detachment, Exudative vitreoretinop... OMIM:613310
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... OMIM:106210
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Catar... OMIM:251270
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... OMIM:615113
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Retinopathy Of Prematurity
Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinal Dystrophy And Obesity
Astigmatism, Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... OMIM:616188
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Macular edema, Macular exudate, Chorioretinal atrophy, Vi... ORPHA:891
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorio... ORPHA:1473
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Cataract 42
Cataract, Developmental cataract OMIM:115900
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Progressive cataract, Developmental cataract OMIM:246000
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Microphthalmia, Syndromic 3
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Sclerocornea, Cataract OMIM:206900
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Cataract OMIM:615181
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Optic disc pall... OMIM:609913
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Vacuolated lymphocytes, Cataract, Retinal degeneration, Rod-... OMIM:204200
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber,... OMIM:305390
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessel... OMIM:204000
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ... OMIM:212550
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme... OMIM:601813
Exfoliation Syndrome
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... OMIM:177650
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal... ORPHA:91495
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microphthalmia, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pa... OMIM:616171
Trichomegaly
Cataract OMIM:190330
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Mac... OMIM:267760
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia, Chorioretinal coloboma, Iris coloboma OMIM:120433
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Norrie Disease
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit... OMIM:310600
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... OMIM:180105
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma, Cataract ORPHA:163937
Autosomal Dominant Keratitis
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Cataract 47
Cataract, Glycosuria, Microcornea OMIM:612018
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Optic disc pallor, Atten... OMIM:613581
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R... OMIM:617304
Microphthalmia, Syndromic 5
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract OMIM:610125
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Remnants of t... OMIM:221900
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A... OMIM:602772
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Macular degeneration, At... OMIM:618195
Hyperlysinemia, Type I
Optic nerve hypoplasia, Ectopia lentis, Anemia OMIM:238700
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Asteroid hyalosis, Cysto... OMIM:618173
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting... ORPHA:83461
Congenital Rubella Syndrome
Microphthalmia, Jaundice, Hepatomegaly, Anemia, Corneal opacity, Abnormality of retinal pigmentat... ORPHA:290
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Retinal dystrophy ORPHA:3156
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Impaired glucose tolerance, Diabetes mellitus, Cataract, Glucose... OMIM:606069
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy, Corneal opacity, Cataract ORPHA:496790
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Heteroc... ORPHA:263479
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Septooptic Dysplasia
Optic nerve hypoplasia, Optic disc hypoplasia OMIM:182230
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613810
Galactose Epimerase Deficiency
Cataract, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Cataract OMIM:620157
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Hyper... OMIM:615986
Vitreoretinochoroidopathy
Microphthalmia, Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retin... OMIM:193220
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Abnormality iris morph... ORPHA:370959
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Optic nerve hypoplasia, Hypoglycemia, Cataract OMIM:620609
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Intermediate Uveitis
Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V... ORPHA:279914
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat... ORPHA:39044
Oculoauricular Syndrome
Microphakia, Microphthalmia, Ocular anterior segment dysgenesis, Posterior synechiae of the anter... OMIM:612109
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:616469
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:613983
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microphthalmia, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, ... OMIM:152950
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c... ORPHA:414
Stromme Syndrome
Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Microcornea, Sclerocornea, Cataract, Pe... OMIM:243605
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Facial dipleg... OMIM:617302
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract ORPHA:250984
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Microphthalmia, Hepatomegaly, Optic disc pallor OMIM:613730
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Rod-cone dystrophy,... OMIM:268315
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Optic disc hypoplasia, Keratoconus ORPHA:401777
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Cerebral Visual Impairment
Optic atrophy, Neonatal hypoglycemia, Optic nerve hypoplasia, Increased cup-to-disc ratio, Retino... ORPHA:447788
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Subcapsular cataract, Cataract, Rod-cone dyst... OMIM:612674
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy... OMIM:614643
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Abnormal corneal endothelium morphology, Bone spic... ORPHA:364055
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia, Aganglionic megacolon, Iris coloboma ORPHA:85284
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:228384
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Optic nerve hypoplasia OMIM:620502
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e... OMIM:610256
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Ro... OMIM:300578
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti... OMIM:609033
Phace Association
Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Developmental cataract, Increased retinal ... OMIM:606519
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnant... OMIM:609049
Nance-Horan Syndrome
Retinal detachment, Microphthalmia, Cataract, Microcornea ORPHA:627
Mody
Hepatocellular adenoma, Neonatal hypoglycemia, Pancreatic hypoplasia, Hypoinsulinemia, Retinopath... ORPHA:552
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Joubert Syndrome 9
Cataract, Hepatic fibrosis, Astigmatism, Retinal dystrophy OMIM:612285
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Abnormal retinal morphology ORPHA:89844
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Ret... OMIM:236670
Cardiofaciocutaneous Syndrome 4
Cataract, Optic nerve hypoplasia OMIM:615280
Idiopathic Panuveitis
Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... ORPHA:280921
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Optic nerve hypoplasia, Zonular cataract OMIM:222765
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia, Prolonged neonatal jaundice OMIM:618828
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia, Hyperopic astigmatism, Astigmatism ORPHA:363686
Fanconi Anemia, Complementation Group I
Microphthalmia, Astigmatism, Optic nerve hypoplasia, Bone marrow hypocellularity, Neutropenia OMIM:609053
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Cataract OMIM:620155
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Wolfram Syndrome 1
Optic atrophy, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Cataract, Diabetes m... OMIM:222300
Cataract 16, Multiple Types
Lenticonus, Developmental cataract, Retinal dystrophy, Posterior polar cataract OMIM:613763
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Retinal dystrophy, Anophthalmia, Microcornea, Sclerocornea, Chorioretinal colobom... ORPHA:139471
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Splenomegaly, ... ORPHA:585
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Type II diabetes mellitus, Catar... ORPHA:79095
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract ORPHA:2714
Lissencephaly Due To Tuba1A Mutation
Optic nerve hypoplasia, Aganglionic megacolon ORPHA:171680
Pancreatic And Cerebellar Agenesis
Anemia, Optic nerve hypoplasia, Pancreatic hypoplasia, Pancreatic aplasia, Hyperglycemia, Hypogly... OMIM:609069
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Hepatomegaly, Optic nerve hypoplasia, Corneal opacity, Leukopenia, Thrombocytopenia OMIM:301056
Septo-Optic Dysplasia Spectrum
Optic nerve hypoplasia, Maternal diabetes, Septo-optic dysplasia ORPHA:3157
Trichothiodystrophy 5, Nonphotosensitive
Optic nerve hypoplasia, Retinal dystrophy OMIM:300953
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia OMIM:618381
Gracile Bone Dysplasia
Microphthalmia, Hypoplastic spleen, Aniridia, Asplenia OMIM:602361
Walker-Warburg Syndrome
Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal detachment, Retinal dystr... ORPHA:899
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia ORPHA:572013
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Alpha-Mannosidosis, Adult Form
Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Optic disc pallor ORPHA:309288
Aniridia 3
Cataract, Aniridia OMIM:617142
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c... ORPHA:79098
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
D-Glyceric Aciduria
Optic nerve hypoplasia, Hypoglycemia OMIM:220120
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Verheij Syndrome
Optic nerve hypoplasia OMIM:615583
Proximal Myotonic Myopathy
Cataract ORPHA:606
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Proteus-Like Syndrome
Thymus hyperplasia, Retinal detachment, Heterochromia iridis, Splenomegaly, Cataract, Limbal derm... ORPHA:2969
White-Sutton Syndrome
Hypoglycemic seizures, Astigmatism, Optic nerve hypoplasia, Rod-cone dystrophy, Iris coloboma OMIM:616364
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Amyloidosis, Finnish Type
Lattice corneal dystrophy, Cataract, Orthostatic hypotension, Optic neuropathy OMIM:105120
Phace Syndrome
Microphthalmia, Retinal vascular malformation, Optic nerve hypoplasia, Heterochromia iridis, Scle... ORPHA:42775
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Microcornea, Septo-optic dysplasia, Cataract, Iris coloboma ORPHA:3301
Squalene Synthase Deficiency
Optic nerve hypoplasia OMIM:618156
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa... OMIM:269200
Congenital Fibrosis Of Extraocular Muscles
Cataract, Optic nerve hypoplasia, Abnormal pupil shape, Anisocoria ORPHA:45358
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Astigmatism, Thrombocytopenia ORPHA:261250
Pearson Syndrome
Hepatomegaly, Anemia, Pancytopenia, Corneal stromal edema, Reticulocytosis, Bone marrow hypocellu... ORPHA:699
Werner Syndrome
Cataract, Retinal degeneration, Diabetes mellitus, Elevated hemoglobin A1c OMIM:277700
Schwannomatosis, Vestibular
Retinal hamartoma, Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opac... OMIM:101000
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Microphthalmia, Abnormal vitreous humor morphol... ORPHA:649
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic nerve hypoplasia, Optic disc pallor, Retinal coloboma OMIM:300749
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Cataract, Type I diabet... OMIM:240300
Knobloch Syndrome
Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration, Vitreoretinopathy, ... ORPHA:1571
Atelis Syndrome 2
Microphthalmia, Hyperinsulinemia, Anemia, Remnants of the hyaloid vascular system, Developmental ... OMIM:620185
Papillorenal Syndrome
Microphthalmia, Retinal detachment, Macular degeneration, Chorioretinal atrophy, Lens luxation, R... OMIM:120330
Brachytelephalangic Chondrodysplasia Punctata
Cataract, Optic nerve hypoplasia, Optic disc hypoplasia ORPHA:79345
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Posterior subcapsular cataract, Peripheral schwannoma, Facial palsy, Abnormal ... ORPHA:637
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia OMIM:617864
Charcot-Marie-Tooth Disease Type 1F
Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,... ORPHA:101085
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia OMIM:612513
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:357001
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Facial palsy ORPHA:261349
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Microphthalmia, Decreased nerve conduction velocity, Cataract, Pigmentary retinopathy OMIM:610651
Mirage Syndrome
Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia, Hypoglycemia OMIM:617053
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology ORPHA:300570
Pituitary Stalk Interruption Syndrome
Hypoglycemia, Septo-optic dysplasia ORPHA:95496
Fg Syndrome Type 1
Optic nerve hypoplasia ORPHA:93932
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Corneal opacity, Chorioretinal... ORPHA:141099
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Facial palsy, Retinal coloboma, Abnormal optic disc morph... ORPHA:508498
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia, B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, R... ORPHA:221139
Craniosynostosis 4
Optic nerve hypoplasia OMIM:600775
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Spondylodysplastic Ehlers-Danlos Syndrome
Posterior subcapsular cataract, Optic nerve hypoplasia, Corneal opacity, Megalocornea, Optic disc... ORPHA:536471
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Iris coloboma, Anophthalmia OMIM:605627
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Hepatic steatosis OMIM:619321
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia OMIM:620029
Meckel Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Microphthalmia, Anophthalmia, Accessory spleen,... ORPHA:564
Asparagine Synthetase Deficiency
Optic nerve hypoplasia OMIM:615574
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos, Attenuation of retinal blood vessels, Optic dis... ORPHA:468631
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Hypoplastic spleen, Anophthalmia OMIM:601186
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Anterior subcapsular ... ORPHA:67036
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity, Buphthalmos, Keratoconjunctivitis sicca ORPHA:495875
Hydranencephaly
Optic nerve hypoplasia, Chorioretinal atrophy ORPHA:2177
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia OMIM:617506
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Optic nerve hypoplasia, Hypoglycemia, Prolonged neonatal jaundice ORPHA:226307
Marshall-Smith Syndrome
Optic nerve hypoplasia OMIM:602535
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Abnormal optic nerve morphology ORPHA:453504
Holoprosencephaly 13, X-Linked
Optic nerve hypoplasia, Septo-optic dysplasia OMIM:301043
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Abnormal optic nerve morphology ORPHA:352665
Neuroocular Syndrome
Microphthalmia, Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia o... OMIM:619539
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia ORPHA:59315
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia ORPHA:457284
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia, Hepatomegaly OMIM:620025
Combined Pituitary Hormone Deficiencies, Genetic Forms
Optic nerve hypoplasia, Hypoglycemia, Septo-optic dysplasia ORPHA:95494
Baller-Gerold Syndrome
Optic atrophy, Optic nerve hypoplasia, Anomalous splenoportal venous system, Astigmatism OMIM:218600
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Retinal detachment, Microcornea, Remnants of the hyaloid vascular s... OMIM:300166
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos, Exocrine pancreatic insufficiency, Retinal colo... ORPHA:508488
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Absent gallbladder ORPHA:500150
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Optic nerve hypoplasia OMIM:620455
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Optic nerve hypoplasia OMIM:620330
Holoprosencephaly 2
Microphthalmia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:157170
Chilton-Okur-Chung Neurodevelopmental Syndrome
Septo-optic dysplasia OMIM:619841

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 Ccdc25

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 Ccdc25.

No publications found that use IMPC mice or data for Ccdc25.

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
Ccdc25tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ccdc25tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ccdc25tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ccdc25em1(IMPC)Mbp Exon Deletion Mice, Tissue
Ccdc25tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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