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Gene: Ttll5 MGI:2443657

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

tubulin tyrosine ligase-like family, member 5

Synonyms:

2310009M18Rik, 1700048H13Rik, D630041K24Rik, 4930556H18Rik, STAMP

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ttll5 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.

Human diseases associated with Ttll5 (2 diseases)
Human diseases predicted to be associated with Ttll5 (356 diseases)

The table below shows human diseases associated to Ttll5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cone-Rod Dystrophy 19		Retinal dystrophy, Cone/cone-rod dystrophy	OMIM:615860
Cone Rod Dystrophy		Abnormality of retinal pigmentation	ORPHA:1872

The table below shows human diseases predicted to be associated to Ttll5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 46	Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S...	OMIM:619095
Spermatogenic Failure 18	Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:617576
Spermatogenic Failure 20	Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:617593
Spermatogenic Failure 19	Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:617592
Spermatogenic Failure 35	Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:618341
Spermatogenic Failure 33	Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:618152
Spermatogenic Failure 34	Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella	OMIM:618153
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in...	OMIM:618751
Spermatogenic Failure 45	Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 49	Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 56	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:619515
Spermatogenic Failure 54	Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled...	OMIM:619379
Spermatogenic Failure 11	Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Infertility	OMIM:614822
Spermatogenic Failure, X-Linked, 3	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ...	OMIM:301059
Spermatogenic Failure 42	Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ...	OMIM:618745
Spermatogenic Failure 40	Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse...	OMIM:618664
Spermatogenic Failure 58	Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ...	OMIM:619585
Spermatogenic Failure 39	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618643
Spermatogenic Failure 51	Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla...	OMIM:619177
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Infertility	OMIM:608653
Male Infertility Due To Acephalic Spermatozoa	Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,...	ORPHA:529970
Spermatogenic Failure 47	Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 16	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 41	Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella	OMIM:618670
Spermatogenic Failure 24	Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep...	OMIM:617959
Retinoschisis, Autosomal Dominant	Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis	OMIM:180270
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Stargardt Disease 1	Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration	OMIM:248200
Spermatogenic Failure 26	Infertility, Acephalic spermatozoa	OMIM:617961
Spermatogenic Failure 7	Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility	OMIM:612997
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Retinal dystrophy, Reticular pigmentary degeneration, Drusen	OMIM:267800
Deafness-Infertility Syndrome	Abnormal spermatogenesis, Male infertility, Reduced sperm motility	OMIM:611102
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular degeneration, Macular scar, Drusen	OMIM:615439
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Exudative Vitreoretinopathy 7	Vitreoretinopathy, Retinal degeneration, Retinal hole	OMIM:617572
Spermatogenic Failure 38	Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility...	OMIM:618433
Retinitis Pigmentosa 48	Rod-cone dystrophy, Macular degeneration	OMIM:613827
Doyne Honeycomb Retinal Dystrophy	Retinal dystrophy, Reticular pigmentary degeneration	OMIM:126600
Macular Dystrophy, Patterned, 3	Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization	OMIM:617111
Cone-Rod Dystrophy 7	Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:603649
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat...	OMIM:610599
Macular Degeneration, Early-Onset	Choroidal neovascularization, Macular degeneration	OMIM:616118
Nondisjunction	Decreased fertility	OMIM:158250
Stargardt Disease 4	Retinal flecks, Macular degeneration	OMIM:603786
Retinoschisis 1, X-Linked, Juvenile	Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti...	OMIM:312700
Stargardt Disease 3	Macular atrophy, Macular dystrophy, Macular flecks	OMIM:600110
Cone-Rod Dystrophy 19	Retinal dystrophy, Cone/cone-rod dystrophy	OMIM:615860
Spermatogenic Failure 3	Infertility	OMIM:606766
Spermatogenic Failure 17	Infertility	OMIM:617214
Oocyte Maturation Defect 1	Infertility	OMIM:615774
Oocyte Maturation Defect 3	Infertility	OMIM:617712
Spermatogenic Failure 27	Infertility	OMIM:617965
Oocyte Maturation Defect 4	Infertility	OMIM:617743
Oocyte Maturation Defect 5	Infertility	OMIM:617996
Spermatogenic Failure 5	Functional abnormality of male internal genitalia, Male infertility	OMIM:243060
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri...	OMIM:608051
Macular Degeneration, X-Linked Atrophic	Macular degeneration	OMIM:300834
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct...	ORPHA:399808
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Subretinal fluid, Cystoid macular degeneration	OMIM:153700
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Retinitis Pigmentosa 31	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:609923
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Sorsby Pseudoinflammatory Fundus Dystrophy	Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ...	ORPHA:59181
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Macular drusen	OMIM:608850
Spermatogenic Failure 48	Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Retinopathy, Pericentral Pigmentary, Dominant	Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,...	OMIM:180210
Cone-Rod Dystrophy 22	Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration	OMIM:617879
Retinitis Pigmentosa Inversa With Deafness	Retinitis pigmentosa inversa, Rod-cone dystrophy	OMIM:268010
Spermatogenic Failure 1	Oligospermia, Male infertility, Cryptozoospermia	OMIM:258150
Partial Chromosome Y Deletion	Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi...	ORPHA:1646
Late-Onset Retinal Degeneration	Sub-RPE deposits, Retinal degeneration, Retinopathy, Rod-cone dystrophy	OMIM:605670
Liberfarb Syndrome	Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment...	OMIM:618889
Retinitis Pigmentosa 13	Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy	OMIM:600059
Retinal Cone Dystrophy 1	Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy	OMIM:180020
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Cone-Rod Dystrophy 11	Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration	OMIM:610381
Retinitis Pigmentosa 70	Optic disc pallor, Retinal degeneration, Rod-cone dystrophy	OMIM:615922
Spermatogenic Failure 62	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Lattice Degeneration Of Retina Leading To Retinal Detachment	Retinal detachment, Lattice retinal degeneration	OMIM:150500
Retinitis Pigmentosa 38	Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy	OMIM:613862
Spermatogenic Failure 32	Infertility, Azoospermia	OMIM:618115
Spermatogenic Failure 23	Infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 22	Infertility, Azoospermia	OMIM:617706
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia	OMIM:619145
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a...	OMIM:619528
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e...	OMIM:610359
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy	OMIM:609021
Retinitis Pigmentosa 32	Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen...	OMIM:609913
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy...	OMIM:603075
Endometriosis, Susceptibility To, 1	Endometriosis, Dysmenorrhea, Decreased fertility	OMIM:131200
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Cone dystrophy, Macular degeneration	OMIM:600977
Macular Dystrophy, Retinal, 1, North Carolina Type	Abnormality of macular pigmentation, Peripheral retinal atrophy, Macular dystrophy, Drusen	OMIM:136550
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy	Optic atrophy, Macular atrophy, Cranial nerve compression	OMIM:250450
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Retinitis Pigmentosa 68	Retinal atrophy, Rod-cone dystrophy	OMIM:615725
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Wagner Vitreoretinopathy	Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ...	OMIM:143200
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Spermatogenic Failure 8	Oligospermia, Azoospermia, Cryptozoospermia	OMIM:613957
Bothnia Retinal Dystrophy	Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular...	ORPHA:85128
Isochromosomy Yp	Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia	ORPHA:98797
Central Areolar Choroidal Dystrophy	Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp...	ORPHA:75377
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size	OMIM:229070
Bothnia Retinal Dystrophy	Retinal dystrophy, Macular degeneration	OMIM:607475
Retinitis Pigmentosa 11	Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ...	OMIM:600138
Spermatogenic Failure 2	Oligospermia, Azoospermia	OMIM:108420
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spermatogenic Failure 25	Azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio...	OMIM:618144
Familial Drusen	Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular...	ORPHA:75376
Macular Dystrophy, Vitelliform, 3	Macular atrophy, Drusen, Choroidal neovascularization, Macular dystrophy, Vitelliform-like macula...	OMIM:608161
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
Retinitis Pigmentosa 80	Macular atrophy	OMIM:617781
Retinitis Pigmentosa 84	Macular coloboma, Macular atrophy, Rod-cone dystrophy	OMIM:618220
Isochromosomy Yq	Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ...	ORPHA:98798
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem...	OMIM:619007
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Retinal degeneration, Cystoid macular degeneration	OMIM:267760
Stargardt Disease	Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti...	ORPHA:827
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Cone Dystrophy 3	Macular atrophy, Cone/cone-rod dystrophy	OMIM:602093
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Exudative Vitreoretinopathy 3	Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment	OMIM:605750
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Retinitis Pigmentosa 73	Retinal atrophy, Rod-cone dystrophy	OMIM:616544
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Peripapillary atrophy, Macular degeneration	OMIM:618195
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Retinal Dystrophy And Obesity	Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy	OMIM:616188
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e...	OMIM:601718
Morm Syndrome	Retinal dystrophy, Retinal atrophy	ORPHA:75858
Retinitis Pigmentosa 27	Macular atrophy, Peripapillary chorioretinal atrophy, Macular edema, Rod-cone dystrophy, Choriore...	OMIM:613750
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure, Y-Linked, 2	Azoospermia	OMIM:415000
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia	OMIM:277180
Deleted in azoospermia	Azoospermia	OMIM:400003
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Isolated Follicle Stimulating Hormone Deficiency	Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon...	ORPHA:52901
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr...	ORPHA:399805
Cone-Rod Dystrophy 16	Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ...	OMIM:614500
Bardet-Biedl Syndrome 16	Retinal degeneration, Rod-cone dystrophy	OMIM:615993
Macular Degeneration, Age-Related, 3	Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity, Drusen	OMIM:608895
Central Retinal Vein Occlusion	Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza...	ORPHA:411527
Intellectual Developmental Disorder With Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Achromatopsia 7	Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea	OMIM:616517
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy	ORPHA:75373
Hypobetalipoproteinemia, Familial, 1	Retinal degeneration, Rod-cone dystrophy	OMIM:615558
Retinitis Pigmentosa 9	Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy	OMIM:180104
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex	OMIM:615147
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen	Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy	OMIM:304030
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration	Retinal degeneration	OMIM:225755
Microphthalmia, Isolated 5	Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro...	OMIM:611040
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Peripheral retinal degeneration, Central retinal exudate, Retinal hemorrhage	OMIM:264420
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Retinal degeneration, Rod-cone dystrophy	OMIM:602271
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Cone-Rod Dystrophy 15	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613660
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,...	ORPHA:49382
Bietti Crystalline Dystrophy	Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig...	ORPHA:41751
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Retinal degeneration, Macular degeneration	OMIM:256730
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D...	ORPHA:320391
Retinitis Pigmentosa 77	Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy	OMIM:617304
Spermatogenic Failure 9	Globozoospermia	OMIM:613958
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Oliver-Mcfarlane Syndrome	Retinal degeneration, Pigmentary retinopathy	OMIM:275400
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Birdshot Chorioretinopathy	Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu...	ORPHA:179
Bardet-Biedl Syndrome 4	Retinal degeneration, Rod-cone dystrophy	OMIM:615982
Oguchi Disease	Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness, Rod-cone dystrophy	ORPHA:75382
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration	OMIM:613767
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Bardet-Biedl Syndrome 21	Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy...	OMIM:617406
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti...	OMIM:617091
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment	OMIM:212550
Leber Congenital Amaurosis 4	Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels	OMIM:604393
Vitreoretinal Degeneration, Snowflake Type	Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
Bietti Crystalline Corneoretinal Dystrophy	Retinal degeneration, Chorioretinal atrophy	OMIM:210370
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Obstructive azoospermia, Male infertility	OMIM:301060
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Sjogren-Larsson Syndrome	Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration	OMIM:270200
Bardet-Biedl Syndrome 2	Retinal degeneration, Rod-cone dystrophy	OMIM:615981
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Retinitis Pigmentosa 41	Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst...	OMIM:612095
Retinal Detachment	Retinal detachment	OMIM:180050
Cholestasis With Gallstone, Ataxia, And Visual Disturbance	Optic atrophy, Retinal degeneration	OMIM:214980
Leber Congenital Amaurosis 15	Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy	OMIM:613843
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig...	OMIM:145350
Spermatogenic Failure 4	Recurrent spontaneous abortion, Azoospermia	OMIM:270960
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Male infertility, Immotile sperm	OMIM:614874
Ciliary Dyskinesia, Primary, 12	Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm	OMIM:612650
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Rod-cone dystrophy, Macular degeneration	OMIM:204200
Familial Male-Limited Precocious Puberty	Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty	ORPHA:3000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy	OMIM:616171
Abetalipoproteinemia	Retinal degeneration, Retinopathy	OMIM:200100
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613464
Retinitis Pigmentosa 79	Macular atrophy, Optic disc pallor	OMIM:617460
Retinitis Pigmentosa 10	Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:180105
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i...	ORPHA:983
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features	Macular degeneration	OMIM:612948
Retinitis Pigmentosa 56	Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst...	OMIM:613581
Ciliary Dyskinesia, Primary, 26	Absent outer dynein arms, Infertility, Reduced sperm motility	OMIM:615500
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis	OMIM:605808
Mucolipidosis Iv	Optic atrophy, Retinal degeneration	OMIM:252650
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration	OMIM:300438
Exudative Vitreoretinopathy 2, X-Linked	Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret...	OMIM:305390
Poretti-Boltshauser Syndrome	Retinal dystrophy, Retinal thinning, Retinal atrophy	OMIM:615960
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon...	OMIM:613807
Cone-Rod Dystrophy 8	Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c...	OMIM:605549
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Macular atrophy, Optic disc pallor, Rod-cone dystrophy	OMIM:615434
Retinitis Punctata Albescens	Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Ab...	ORPHA:52427
Severe Early-Childhood-Onset Retinal Dystrophy	Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul...	ORPHA:364055
Retinal Cone Dystrophy 3B	Macular atrophy, Cone/cone-rod dystrophy	OMIM:610356
Ciliary Dyskinesia With Defective Radial Spokes	Absent respiratory ciliary axoneme radial spokes, Immotile sperm	OMIM:242670
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility	OMIM:612649
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of...	OMIM:615986
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Retinal atrophy	OMIM:616722
Ciliary Dyskinesia, Primary, 19	Absent inner and outer dynein arms, Infertility, Reduced sperm motility	OMIM:614935
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Small scrotum, Urogenital sinus anomaly, Ambiguous genitalia, male, Ambiguous geni...	ORPHA:753
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Ciliary Dyskinesia, Primary, 22	Absent inner and outer dynein arms, Infertility, Reduced sperm motility	OMIM:615444
Macrophthalmia, Colobomatous, With Microcornea	Macular atrophy	OMIM:602499
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium...	ORPHA:67042
Ciliary Dyskinesia, Primary, 15	Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia	OMIM:613808
Spastic Paraplegia 11, Autosomal Recessive	Retinal degeneration, Macular degeneration	OMIM:604360
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Macular degeneration	OMIM:617236
Cone-Rod Dystrophy 2	Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at...	OMIM:120970
Scheie Syndrome	Retinal degeneration	OMIM:607016
Cone-Rod Dystrophy 10	Cone/cone-rod dystrophy, Rod-cone dystrophy, Macular degeneration	OMIM:610283
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration	OMIM:249270
Ceroid Lipofuscinosis, Neuronal, 10	Retinal atrophy, Rod-cone dystrophy	OMIM:610127
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Retinopathy, Macular degeneration	ORPHA:816
Bardet-Biedl Syndrome 17	Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph...	OMIM:615994
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Retinal degeneration	OMIM:613819
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration	ORPHA:1573
Alg6-Cdg	Retinal degeneration, Rod-cone dystrophy	ORPHA:79320
Senior-Loken Syndrome 9	Retinal dystrophy, Rod-cone dystrophy, Macular degeneration	OMIM:616629
Acute Zonal Occult Outer Retinopathy	Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig...	ORPHA:284454
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Choroidal neovascularization, Macular degeneration	ORPHA:404451
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Macular atrophy, Optic disc pallor, Retinal degeneration, Abnormal auditory evoked potentials, Ma...	OMIM:619260
Androgen Insensitivity, Partial	Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch...	OMIM:312300
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, E...	OMIM:616959
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal dystrophy, Retinal atrophy	ORPHA:370022
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Retinal degeneration, Pigmentary retinopathy	ORPHA:79264
Paget Disease Of Bone 5, Juvenile-Onset	Retinal degeneration, Retinopathy, Macular scar, Angioid streaks of the fundus	OMIM:239000
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Spastic Paraplegia 15, Autosomal Recessive	Retinal degeneration, Macular degeneration	OMIM:270700
Lead Poisoning	Oligospermia, Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormality of the ...	ORPHA:330015
Refsum Disease, Classic	Retinal degeneration, Rod-cone dystrophy	OMIM:266500
Werner Syndrome	Retinal degeneration	OMIM:277700
46,Xx Ovotesticular Disorder Of Sex Development	Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali...	ORPHA:2138
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Hsd10 Disease, Infantile Type	Optic atrophy, Retinal degeneration, Rod-cone dystrophy	ORPHA:391428
Joubert Syndrome 6	Chorioretinal coloboma, Retinal degeneration	OMIM:610688
Papillorenal Syndrome	Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc coloboma, Macular ...	OMIM:120330
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration	OMIM:615630
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Azoospermia	OMIM:300985
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Retinal degeneration	ORPHA:442835
Mucolipidosis Iii Alpha/Beta	Retinal degeneration, Retinopathy	OMIM:252600
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy	ORPHA:436245
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration	OMIM:615249
Axial Spondylometaphyseal Dysplasia	Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy	ORPHA:168549
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration	ORPHA:284289
Pseudoxanthoma Elasticum	Retinal hemorrhage, Choroidal neovascularization, Optic disc drusen, Macular degeneration, Retina...	OMIM:264800
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Primary Ciliary Dyskinesia	Female infertility, Male infertility, Abnormal sperm motility	ORPHA:244
Cone-Rod Dystrophy 6	Macular atrophy, Cone/cone-rod dystrophy	OMIM:601777
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Retinal degeneration, Rod-cone dystrophy	ORPHA:166035
Aceruloplasminemia	Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration	ORPHA:48818
Late Infantile Neuronal Ceroid Lipofuscinosis	Retinal degeneration	ORPHA:168491
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Retinal degeneration, Rod-cone dystrophy	OMIM:250410
Bardet-Biedl Syndrome 1	Aganglionic megacolon, Retinal degeneration, Retinal dystrophy, Hyperautofluorescent macular lesi...	OMIM:209900
Senior-Loken Syndrome 8	Macular atrophy	OMIM:616307
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Retinal degeneration, Bull's eye maculopathy, Retinal flecks, Rod-cone dystrophy, ...	ORPHA:157850
Multiple Sulfatase Deficiency	Retinal degeneration	OMIM:272200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Macular atrophy, Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, ...	ORPHA:85167
Autosomal Dominant Cerebellar Ataxia	Macular degeneration, Retinal degeneration, Pigmentary retinopathy	ORPHA:99
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy	ORPHA:412057
Zika Virus Disease	Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial...	ORPHA:448237
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus	OMIM:177850
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Mannosidosis, Alpha B, Lysosomal	Retinal degeneration	OMIM:248500
Hurler Syndrome	Retinal degeneration	OMIM:607014
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Retinal degeneration	ORPHA:2822
Kniest Dysplasia	Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative vitreoretinopathy, Retinal det...	ORPHA:485
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Retinal degeneration, Macular coloboma, Abnormality of macular pigmentation, Pigme...	ORPHA:79282
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal autonomic nervous system physiology, Abnormal cranial nerve morphology, Macular degenera...	ORPHA:247234
Cancer-Associated Retinopathy	Optic atrophy, Optic disc pallor, Granular macular appearance, Vitritis, Retinal pigment epitheli...	ORPHA:71505
Knobloch Syndrome	Vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration	ORPHA:1571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Retinal atrophy	OMIM:236670
Trichothiodystrophy	Retinal degeneration, Macular degeneration	ORPHA:33364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Retinal degeneration, Retinal dysplasia, Hypoplasia of the retina, Retinal atrophy	OMIM:253280
Cockayne Syndrome Type 3	Optic disc pallor, Retinal degeneration, Retinal dystrophy, Abnormality of peripheral nerve condu...	ORPHA:90324
Autosomal Dominant Polycystic Kidney Disease	Reduced sperm motility	ORPHA:730
Mucopolysaccharidosis Type 2	Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Decreased nerve conduct...	ORPHA:580
Spinocerebellar Ataxia Type 7	Abnormal fundus morphology, Cone/cone-rod dystrophy, Macular degeneration	ORPHA:94147
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Retinal degeneration	OMIM:618479
Cockayne Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal degeneration, Reti...	ORPHA:191
Mucopolysaccharidosis Type 3	Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:581
Coccidioidomycosis	Abnormal sperm morphology, Abnormality of the female genitalia, Abnormality of the male genitalia	ORPHA:228123
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration	OMIM:208500
Renal Cysts And Diabetes Syndrome	Hypospadias, Atretic vas deferens, Reduced sperm motility, Bicornuate uterus, Epididymal cyst, Hy...	OMIM:137920
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Retinal degeneration, Pigmentary retinopathy	OMIM:234200
Carney Complex	Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Sertoli ...	ORPHA:1359
Farber Disease	Cherry red spot of the macula, Macular degeneration	ORPHA:333
Gaucher Disease, Type I	Macular atrophy	OMIM:230800
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Cranial nerve compression, Retinal atrophy, Abnormal retinal morphology	ORPHA:2785
Alport Syndrome	Retinal flecks, Macular degeneration	ORPHA:63
Bohring-Opitz Syndrome	Optic atrophy, Retinal atrophy	ORPHA:97297
Xq21 Microdeletion Syndrome	Optic atrophy, Choroideremia, Chorioretinal degeneration, Abnormal chorioretinal morphology, Reti...	ORPHA:1435
Say-Barber-Miller Syndrome	Optic atrophy, Rod-cone dystrophy, Macular degeneration	ORPHA:3132
Non-Specific Syndromic Intellectual Disability	Papilledema, Retinal atrophy	ORPHA:528084
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:79474
Alström Syndrome	Optic disc pallor, Drusen, Retinal dystrophy, Retinal pigment epithelial atrophy, Cone/cone-rod d...	ORPHA:64

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 Ttll5

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 Ttll5.

No publications found that use IMPC mice or data for Ttll5.

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MGI Allele	Allele Type	Produced
Ttll5^{tm3a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ttll5^{tm3e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ttll5^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ttll5^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ttll5^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ttll5^{tm41714(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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