Gene Summary

Name:
carbonic anhydrase 14
Synonyms:
CA XIV

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 retina morphology Car14tm1b(EUCOMM)Hmgu HOM Early adult 4.09×10-10
abnormal retina vasculature morphology Car14tm1b(EUCOMM)Hmgu HOM Early adult 2.60×10-08
abnormal retina blood vessel morphology Car14tm1b(EUCOMM)Hmgu HOM Early adult 8.94×10-08
decreased respiratory quotient Car14tm1b(EUCOMM)Hmgu HOM Early adult 4.98×10-06
decreased total retina thickness Car14tm1b(EUCOMM)Hmgu HOM Early adult 4.62×10-19

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Car14 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 Car14 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Congenital Glaucoma
Retinal detachment ORPHA:98976
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... OMIM:180080
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Coats Disease
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology ORPHA:190
Stickler Syndrome Type 2
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Coloboma Of Macula
Macular coloboma OMIM:120300
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Nephronophthisis 14
Retinal degeneration OMIM:614844
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Ectopia Lentis Et Pupillae
Retinal detachment OMIM:225200
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Birdshot Chorioretinopathy
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy OMIM:605808
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm OMIM:615113
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Retinal cotton wool spot, Retinal neovascularization, Abnormal retinal vascular mo... ORPHA:247691

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 Car14

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 Car14.

No publications found that use IMPC mice or data for Car14.

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MGI Allele Allele Type Produced
Car14tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Car14tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Car14tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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