Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 | Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy | OMIM:215500 | |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole | Reticular pigmentary degeneration, Retinal dystrophy, Drusen | OMIM:267800 | |
Stargardt Disease 1 | Retinitis pigmentosa inversa, Macular degeneration, 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, 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, Macular atrophy, Pigmentary retinopathy, Attenuation of re... | OMIM:613830 | |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia | Hyposmia | OMIM:615266 | |
Retinitis Pigmentosa 36 | Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... | OMIM:610599 | |
Aural Atresia, Congenital | Hyposmia | OMIM:607842 | |
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 | Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment | OMIM:617572 | |
Apnea, Obstructive Sleep | Anosmia | OMIM:107650 | |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia | Anosmia | OMIM:615270 | |
Exudative Vitreoretinopathy 3 | Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment | OMIM:605750 | |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia | Anosmia | OMIM:614858 | |
Retinopathy, Pericentral Pigmentary, Dominant | Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... | OMIM:180210 | |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia | Anosmia | OMIM:612370 | |
Reese Retinal Dysplasia | Retinal dysplasia, Remnants of the hyaloid vascular system | OMIM:266400 | |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia | Abnormality of the sense of smell | OMIM:146110 | |
Retinoschisis 1, X-Linked, Juvenile | Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... | OMIM:312700 | |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia | Anosmia | OMIM:615267 | |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia | Bifid nose, Anosmia, Hyposmia | OMIM:614838 | |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome | Abnormality of the sense of smell, Aplasia/Hypoplasia involving the nose, Choanal atresia | ORPHA:1135 | |
Body Mass Index Quantitative Trait Locus 19 | Anosmia, Hyposmia | OMIM:617885 | |
Chondrodysplasia Punctata 1, X-Linked Recessive | Depressed nasal bridge, Short nasal septum, Anosmia, Short nose | OMIM:302950 | |
Retinitis Pigmentosa 87 With Choroidal Involvement | Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... | OMIM:618697 | |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia | Anosmia, Hyposmia | OMIM:612702 | |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia | Anosmia, Hyposmia | 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 | |
Peroxisome Biogenesis Disorder 9B | Anosmia | OMIM:614879 | |
Bardet-Biedl Syndrome 19 | Hyposmia | OMIM:615996 | |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia | Anosmia | OMIM:614839 | |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia | Anosmia | OMIM:614842 | |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia | Anosmia, Hyposmia | OMIM:244200 | |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia | Anosmia | OMIM:614880 | |
Hyperostosis Cranialis Interna | Anosmia, Hyposmia | OMIM:144755 | |
Hypogonadotropic Hypogonadism 25 With Anosmia | Anosmia | OMIM:618841 | |
Indifference To Pain, Congenital, Autosomal Recessive | Anosmia, Hyposmia | OMIM:243000 | |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome | Anosmia | ORPHA:2057 | |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia | Anosmia, Hyposmia, Choanal atresia | OMIM:147950 | |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature | Anosmia, Wide nasal bridge | OMIM:210745 | |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia | Anosmia, Hyposmia | OMIM:614897 | |
Parkinson Disease 8, Autosomal Dominant | Hyposmia | OMIM:607060 | |
Solitary Median Maxillary Central Incisor | Choanal atresia, Midnasal stenosis, Anosmia, Pyriform aperture stenosis, Abnormal nasopharynx mor... | OMIM:147250 | |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome | Abnormality of the sense of smell | ORPHA:3201 | |
Gorlin Syndrome | Abnormality of the sense of smell, Wide nasal bridge | ORPHA:377 | |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome | Abnormal nostril morphology, Anosmia, Short nose | ORPHA:1295 | |
Marcus-Gunn Syndrome | Abnormality of the sense of smell, Choanal atresia | ORPHA:91412 | |
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 | |
Bardet-Biedl Syndrome 17 | Anosmia, Hyposmia | OMIM:615994 | |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia | Anosmia | OMIM:614837 | |
Johnson Neuroectodermal Syndrome | Bulbous nose, Anosmia, Choanal atresia | ORPHA:2316 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii | Hyposmia | OMIM:616488 | |
Refsum Disease, Classic | Anosmia | OMIM:266500 | |
Kufor-Rakeb Syndrome | Anosmia, Hyposmia | OMIM:606693 | |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia | Anosmia, Hyposmia | OMIM:308700 | |
Ciliary Dyskinesia, Primary, 1 | Chronic rhinitis, Recurrent bronchitis, Anosmia, Nasal polyposis | OMIM:244400 | |
Johnson Neuroectodermal Syndrome | Choanal stenosis, Anosmia | OMIM:147770 | |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy | Anosmia | OMIM:601152 | |
Hydrolethalus | Abnormality of the sense of smell | ORPHA:2189 | |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia | Abnormality of the sense of smell | OMIM:228300 | |
Kallmann Syndrome With Spastic Paraplegia | Anosmia | OMIM:308750 | |
8Q21.11 Microdeletion Syndrome | Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose | 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 | |
Congenital Hypothyroidism | Anosmia, Depressed nasal ridge | ORPHA:442 | |
Campomelic Dysplasia | Abnormality of the sense of smell, Depressed nasal bridge | ORPHA:140 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Absent nares, Single naris, Anosmia, Hyposmia | ORPHA:2250 | |
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 | Anosmia, Hyposmia | ORPHA:478 | |
Moebius Syndrome | Abnormality of the sense of smell | ORPHA:570 | |
Waardenburg Syndrome, Type 4C | Anosmia | OMIM:613266 | |
Holoprosencephaly | Absent nares, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Hyposmia, Anosmia, An... | ORPHA:2162 | |
8P11.2 Deletion Syndrome | Depressed nasal bridge, Anosmia | ORPHA:251066 | |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia | Anosmia | OMIM:619718 | |
Hereditary Late-Onset Parkinson Disease | Hyposmia | ORPHA:411602 | |
Waardenburg Syndrome, Type 2E | Anosmia | OMIM:611584 | |
Superficial Siderosis | Partial anosmia, Anosmia | ORPHA:247245 | |
Bosma Arhinia Microphthalmia Syndrome | Anosmia, Aplasia of the nose, Choanal atresia | OMIM:603457 | |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease | Anosmia | OMIM:609136 | |
Meningioma | Abnormality of the sense of smell | ORPHA:2495 | |
Wilson Disease | Hyposmia | OMIM:277900 | |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies | Hyposmia | OMIM:618653 | |
Occipital Horn Syndrome | Abnormality of the sense of smell | ORPHA:198 | |
Amoebiasis Due To Free-Living Amoebae | Hyposmia | ORPHA:68 | |
Leopard Syndrome 1 | Depressed nasal ridge, Hyposmia | OMIM:151100 | |
Charge Syndrome | Depressed nasal bridge, Anosmia, 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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