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.
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Pde1c by orthology or direct annotation.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Deafness, Autosomal Dominant 74 | OMIM:618140 |
The table below shows human diseases predicted to be associated to Pde1c by phenotypic similarity.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Retinal Dysplasia, Primary | Retinal dysplasia, Falciform retinal fold | OMIM:312550 | |
| Anosmia For Isobutyric Acid | Partial anosmia | OMIM:207000 | |
| Anosmia For Butyl Mercaptan | Anosmia | OMIM:270350 | |
| Isovaleric Acid, Inability To Smell | Anosmia | OMIM:243450 | |
| Anosmia, Isolated Congenital, X-Linked | Anosmia | OMIM:301700 | |
| Anosmia, Isolated Congenital | Anosmia | OMIM:107200 | |
| Leber Congenital Amaurosis 10 | Hyposmia | OMIM:611755 | |
| Choroidal Dystrophy, Central Areolar, 1 | Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy | OMIM:215500 | |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole | Drusen, Reticular pigmentary degeneration, Retinal dystrophy | OMIM:267800 | |
| Stargardt Disease 1 | Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy | OMIM:248200 | |
| Atrophia Maculosa Varioliformis Cutis, Familial | Macular atrophy | OMIM:601341 | |
| Macular Degeneration, Age-Related, 6 | Macular degeneration | OMIM:613757 | |
| Macular Degeneration, Age-Related, 7 | Macular degeneration | OMIM:610149 | |
| 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 | |
| Musk, Inability To Smell | Anosmia | OMIM:254150 | |
| Night Blindness, Congenital Stationary, Type 1D | Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... | OMIM:613830 | |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia | Hyposmia | OMIM:615266 | |
| Aural Atresia, Congenital | Hyposmia | OMIM:607842 | |
| Retinitis Pigmentosa 36 | Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... | OMIM:610599 | |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia | Hyposmia | OMIM:615271 | |
| Thumb Agenesis, Short Stature, And Immunodeficiency | Anosmia | OMIM:274190 | |
| Grouped Pigmentation Of The Retina | Abnormality of retinal pigmentation | OMIM:233800 | |
| Exudative Vitreoretinopathy 7 | Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration | OMIM:617572 | |
| Apnea, Obstructive Sleep | Anosmia | OMIM:107650 | |
| Exudative Vitreoretinopathy 3 | Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold | OMIM:605750 | |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia | Anosmia | OMIM:615270 | |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia | Anosmia | OMIM:614858 | |
| Retinopathy, Pericentral Pigmentary, Dominant | Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... | OMIM:180210 | |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia | Anosmia | OMIM:612370 | |
| Reese Retinal Dysplasia | Remnants of the hyaloid vascular system, Retinal dysplasia | OMIM:266400 | |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia | Abnormality of the sense of smell | OMIM:146110 | |
| Retinoschisis 1, X-Linked, Juvenile | Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... | OMIM:312700 | |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia | Anosmia | OMIM:615267 | |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia | Hyposmia, Anosmia, Bifid nose | OMIM:614838 | |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome | Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell | ORPHA:1135 | |
| Body Mass Index Quantitative Trait Locus 19 | Hyposmia, Anosmia | OMIM:617885 | |
| Chondrodysplasia Punctata 1, X-Linked Recessive | Short nasal septum, Anosmia, Depressed nasal bridge, Short nose | OMIM:302950 | |
| Retinitis Pigmentosa 87 With Choroidal Involvement | Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... | OMIM:618697 | |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:612702 | |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:610628 | |
| Coloboma Of Macula | Macular coloboma | OMIM:120300 | |
| Leukoencephalopathy With Dystonia And Motor Neuropathy | Hyposmia | OMIM:613724 | |
| Coloboma Of Optic Nerve | Retinal detachment, Optic disc coloboma | OMIM:120430 | |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia | Anosmia | OMIM:614839 | |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia | Anosmia | OMIM:614842 | |
| Peroxisome Biogenesis Disorder 9B | Anosmia, Total anosmia | OMIM:614879 | |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:244200 | |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia | Anosmia | OMIM:614880 | |
| Hypogonadotropic Hypogonadism 25 With Anosmia | Anosmia | OMIM:618841 | |
| Hyperostosis Cranialis Interna | Hyposmia, Anosmia | OMIM:144755 | |
| Indifference To Pain, Congenital, Autosomal Recessive | Hyposmia, Anosmia | OMIM:243000 | |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:614897 | |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome | Anosmia | ORPHA:2057 | |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia | Hyposmia, Anosmia, Choanal atresia | OMIM:147950 | |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature | Anosmia, Wide nasal bridge | OMIM:210745 | |
| Bardet-Biedl Syndrome 19 | Hyposmia | OMIM:615996 | |
| Parkinson Disease 8, Autosomal Dominant | Hyposmia | OMIM:607060 | |
| Solitary Median Maxillary Central Incisor | Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... | OMIM:147250 | |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome | Abnormality of the sense of smell | ORPHA:3201 | |
| Gorlin Syndrome | Wide nasal bridge, Abnormality of the sense of smell | ORPHA:377 | |
| Marcus-Gunn Syndrome | Choanal atresia, Abnormality of the sense of smell | ORPHA:91412 | |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome | Abnormal nostril morphology, Short nose, Anosmia | ORPHA:1295 | |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia | Anosmia | OMIM:616030 | |
| Huntington Disease | Abnormality of the sense of smell | ORPHA:399 | |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia | Anosmia | OMIM:614841 | |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia | Anosmia | OMIM:614837 | |
| Bardet-Biedl Syndrome 17 | Hyposmia, Anosmia | OMIM:615994 | |
| Kleine-Levin Syndrome | Parosmia | ORPHA:33543 | |
| Johnson Neuroectodermal Syndrome | Bulbous nose, Anosmia, Choanal atresia | ORPHA:2316 | |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:308700 | |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii | Hyposmia | OMIM:616488 | |
| Polyendocrine-Polyneuropathy Syndrome | Abnormality of the sense of smell | OMIM:616113 | |
| Hydrolethalus | Abnormality of the sense of smell | ORPHA:2189 | |
| Kufor-Rakeb Syndrome | Hyposmia, Anosmia | OMIM:606693 | |
| Refsum Disease, Classic | Anosmia | OMIM:266500 | |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy | Anosmia | OMIM:601152 | |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia | Abnormality of the sense of smell | OMIM:228300 | |
| Kallmann Syndrome With Spastic Paraplegia | Anosmia | OMIM:308750 | |
| Ciliary Dyskinesia, Primary, 1 | Nasal polyposis, Anosmia, Chronic rhinitis | OMIM:244400 | |
| 8Q21.11 Microdeletion Syndrome | Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell | ORPHA:284160 | |
| Refsum Disease | Anosmia | ORPHA:773 | |
| Isolated Follicle Stimulating Hormone Deficiency | Anosmia | ORPHA:52901 | |
| Acro-Renal-Mandibular Syndrome | Abnormality of the sense of smell | ORPHA:958 | |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Hyposmia, Anosmia, Absent nares, Single naris | ORPHA:2250 | |
| Campomelic Dysplasia | Depressed nasal bridge, Abnormality of the sense of smell | ORPHA:140 | |
| Septo-Optic Dysplasia Spectrum | Anosmia | ORPHA:3157 | |
| Young-Onset Parkinson Disease | Hyposmia | ORPHA:2828 | |
| Kallmann Syndrome-Heart Disease Syndrome | Partial anosmia, Total anosmia | ORPHA:2326 | |
| Kallmann Syndrome | Hyposmia, Anosmia | ORPHA:478 | |
| Moebius Syndrome | Abnormality of the sense of smell | ORPHA:570 | |
| Waardenburg Syndrome, Type 4C | Anosmia | OMIM:613266 | |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia | Anosmia | OMIM:619718 | |
| Holoprosencephaly | Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Anosmia, Depressed nasa... | ORPHA:2162 | |
| 8P11.2 Deletion Syndrome | Anosmia, Depressed nasal bridge | ORPHA:251066 | |
| Hereditary Late-Onset Parkinson Disease | Hyposmia | ORPHA:411602 | |
| Waardenburg Syndrome, Type 2E | Anosmia | OMIM:611584 | |
| Superficial Siderosis | Anosmia, Partial anosmia | ORPHA:247245 | |
| Bosma Arhinia Microphthalmia Syndrome | Anosmia, Choanal atresia, Aplasia of the nose | OMIM:603457 | |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease | Anosmia | OMIM:609136 | |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies | Hyposmia | OMIM:618653 | |
| Wilson Disease | Hyposmia | OMIM:277900 | |
| Meningioma | Abnormality of the sense of smell | ORPHA:2495 | |
| Occipital Horn Syndrome | Abnormality of the sense of smell | ORPHA:198 | |
| Amoebiasis Due To Free-Living Amoebae | Hyposmia | ORPHA:68 | |
| Leopard Syndrome 1 | Hyposmia, Depressed nasal ridge | OMIM:151100 | |
| Charge Syndrome | Anosmia, Depressed nasal bridge, Choanal atresia | ORPHA:138 | |
| Lacrimoauriculodentodigital Syndrome | Anosmia, Choanal atresia | ORPHA:2363 | |
| Charge Syndrome | Anosmia, Choanal atresia | OMIM:214800 | |
| Deafness, Autosomal Dominant 74 | OMIM:618140 |
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| MGI Allele | Allele Type | Produced |
|---|---|---|
| Pde1ctm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
| Pde1cem1(IMPC)Bay | Exon Deletion | Mice |
| Pde1ctm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
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