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 predicted to be associated to Prune2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
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 | |
Musk, Inability To Smell | Anosmia | OMIM:254150 | |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia | Hyposmia | OMIM:615266 | |
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 | |
Apnea, Obstructive Sleep | Anosmia | OMIM:107650 | |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia | Anosmia | OMIM:615270 | |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia | Anosmia | OMIM:614858 | |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia | Anosmia | OMIM:612370 | |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia | Abnormality of the sense of smell | OMIM:146110 | |
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 | |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia | Anosmia | OMIM:615267 | |
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 | |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:612702 | |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:610628 | |
Leukoencephalopathy With Dystonia And Motor Neuropathy | Hyposmia | OMIM:613724 | |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia | Anosmia | OMIM:614839 | |
Peroxisome Biogenesis Disorder 9B | Anosmia, Total anosmia | OMIM:614879 | |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia | Anosmia | OMIM:614842 | |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:244200 | |
Hyperostosis Cranialis Interna | Hyposmia, Anosmia | OMIM:144755 | |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia | Anosmia | OMIM:614880 | |
Indifference To Pain, Congenital, Autosomal Recessive | Hyposmia, Anosmia | OMIM:243000 | |
Hypogonadotropic Hypogonadism 25 With Anosmia | Anosmia | OMIM:618841 | |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:614897 | |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia | Hyposmia, Anosmia, Choanal atresia | OMIM:147950 | |
Bardet-Biedl Syndrome 19 | Hyposmia | OMIM:615996 | |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome | Anosmia | ORPHA:2057 | |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature | Anosmia, Wide nasal bridge | OMIM:210745 | |
Solitary Median Maxillary Central Incisor | Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... | OMIM:147250 | |
Gorlin Syndrome | Wide nasal bridge, Abnormality of the sense of smell | ORPHA:377 | |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome | Abnormality of the sense of smell | ORPHA:3201 | |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome | Abnormal nostril morphology, Short nose, Anosmia | ORPHA:1295 | |
Parkinson Disease 8, Autosomal Dominant | Hyposmia | OMIM:607060 | |
Marcus-Gunn Syndrome | Choanal atresia, Abnormality of the sense of smell | ORPHA:91412 | |
Huntington Disease | Abnormality of the sense of smell | ORPHA:399 | |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia | Anosmia | OMIM:616030 | |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia | Anosmia | OMIM:614841 | |
Bardet-Biedl Syndrome 17 | Hyposmia, Anosmia | OMIM:615994 | |
Johnson Neuroectodermal Syndrome | Bulbous nose, Anosmia, Choanal atresia | ORPHA:2316 | |
Kleine-Levin Syndrome | Parosmia | ORPHA:33543 | |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia | Anosmia | OMIM:614837 | |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:308700 | |
Kufor-Rakeb Syndrome | Hyposmia, Anosmia | OMIM:606693 | |
Hydrolethalus | Abnormality of the sense of smell | ORPHA:2189 | |
Refsum Disease, Classic | Anosmia | OMIM:266500 | |
Polyendocrine-Polyneuropathy Syndrome | Abnormality of the sense of smell | OMIM:616113 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii | Hyposmia | OMIM:616488 | |
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 | |
Campomelic Dysplasia | Depressed nasal bridge, Abnormality of the sense of smell | ORPHA:140 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Hyposmia, Anosmia, Absent nares, Single naris | 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 | Hyposmia, Anosmia | ORPHA:478 | |
Holoprosencephaly | Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Anosmia, Depressed nasa... | ORPHA:2162 | |
Moebius Syndrome | Abnormality of the sense of smell | ORPHA:570 | |
8P11.2 Deletion Syndrome | Anosmia, Depressed nasal bridge | ORPHA:251066 | |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia | Anosmia | OMIM:619718 | |
Waardenburg Syndrome, Type 4C | Anosmia | OMIM:613266 | |
Hereditary Late-Onset Parkinson Disease | Hyposmia | ORPHA:411602 | |
Superficial Siderosis | Anosmia, Partial anosmia | ORPHA:247245 | |
Waardenburg Syndrome, Type 2E | Anosmia | OMIM:611584 | |
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 |
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 Prune2.
There are 2 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. | G3 (Bethesda, Md.) (June 2020) | Prune2tm1e(KOMP)Wtsi | PMC7263671 |
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. | Nature communications (August 2019) | Prune2tm1e(KOMP)Wtsi | PMC6671969 |
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
MGI Allele | Allele Type | Produced |
---|---|---|
Prune2tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Prune2tm1e(KOMP)Wtsi | Targeted, non-conditional allele | Mice, ES Cells |
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