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Gene: Pde1c MGI:108413

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Gene Summary

Name:
phosphodiesterase 1C
Synonyms:
N/A

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IMPC Data Collections

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
abnormal retina inner nuclear layer morphology Pde1cem1(IMPC)Bay HET   Early adult 4.40×10-05
preweaning lethality, incomplete penetrance Pde1cem1(IMPC)Bay HOM   Early adult 0.00

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.

Eye Morphology

VIP of left eye

14 Images

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Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Eye Morphology

VIP of right eye

15 Images

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Human diseases caused by Pde1c 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.

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

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 Pde1c

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 Pde1c.

No publications found that use IMPC mice or data for Pde1c.

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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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