Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 Carns1 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 18 With Or Without Anosmia | Anosmia | OMIM:615267 | |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome | Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell | ORPHA:1135 | |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia | Hyposmia, Anosmia, Bifid nose | OMIM:614838 | |
Chondrodysplasia Punctata 1, X-Linked Recessive | Short nasal septum, Anosmia, Depressed nasal bridge, Short nose | OMIM:302950 | |
Body Mass Index Quantitative Trait Locus 19 | Hyposmia, Anosmia | OMIM:617885 | |
Leukoencephalopathy With Dystonia And Motor Neuropathy | Hyposmia, Decreased motor nerve conduction velocity | OMIM:613724 | |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:612702 | |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:610628 | |
Hyperostosis Cranialis Interna | Hyposmia, Optic atrophy, Anosmia, Facial palsy | OMIM:144755 | |
Indifference To Pain, Congenital, Autosomal Recessive | Hyposmia, Abnormal autonomic nervous system physiology, Anosmia, Abnormal nerve conduction velocity | OMIM:243000 | |
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 | |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome | Anosmia, Abnormal cranial nerve morphology | ORPHA:2057 | |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:244200 | |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature | Anosmia, Wide nasal bridge, Frontalis muscle weakness | OMIM:210745 | |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia | Anosmia | OMIM:614880 | |
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 | |
Marcus-Gunn Syndrome | Abnormal fifth cranial nerve morphology, Choanal atresia, Abnormality of the sense of smell | ORPHA:91412 | |
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 | |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome | Abnormal nostril morphology, Short nose, Anosmia | ORPHA:1295 | |
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 | |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia | Anosmia | OMIM:616030 | |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy | Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Anosmia | OMIM:601152 | |
Huntington Disease | Abnormality of the sense of smell | ORPHA:399 | |
Johnson Neuroectodermal Syndrome | Bulbous nose, Facial palsy, Anosmia, Choanal atresia | ORPHA:2316 | |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia | Anosmia | OMIM:614841 | |
Ciliary Dyskinesia, Primary, 1 | Absent outer dynein arms, Nasal polyposis, Anosmia, Chronic rhinitis | OMIM:244400 | |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia | Anosmia | OMIM:614837 | |
Bardet-Biedl Syndrome 17 | Hyposmia, Anosmia | OMIM:615994 | |
Kleine-Levin Syndrome | Parosmia | ORPHA:33543 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii | Hyposmia | OMIM:616488 | |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:308700 | |
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 | |
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 | Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell | ORPHA:284160 | |
Refsum Disease | Anosmia | ORPHA:773 | |
Septo-Optic Dysplasia Spectrum | Septo-optic dysplasia, Anosmia, Optic nerve hypoplasia | ORPHA:3157 | |
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 | |
Young-Onset Parkinson Disease | Hyposmia, Abnormal autonomic nervous system physiology | ORPHA:2828 | |
Campomelic Dysplasia | Depressed nasal bridge, Abnormality of the sense of smell | ORPHA:140 | |
Waardenburg Syndrome, Type 4C | Aganglionic megacolon, Anosmia | OMIM:613266 | |
Kallmann Syndrome-Heart Disease Syndrome | Partial anosmia, Total anosmia | ORPHA:2326 | |
Kallmann Syndrome | Hyposmia, Anosmia | ORPHA:478 | |
Moebius Syndrome | Facial palsy, Abnormality of the sense of smell | ORPHA:570 | |
Holoprosencephaly | Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Anosmia, Depressed nasa... | ORPHA:2162 | |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia | Anosmia | OMIM:619718 | |
Superficial Siderosis | Abnormality of the brachial nerve plexus, Anosmia, Abnormality of the vestibulocochlear nerve, Pa... | ORPHA:247245 | |
Hereditary Late-Onset Parkinson Disease | Hyposmia, Orthostatic hypotension due to autonomic dysfunction | ORPHA:411602 | |
8P11.2 Deletion Syndrome | Anosmia, Depressed nasal bridge | ORPHA:251066 | |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease | Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... | OMIM:609136 | |
Waardenburg Syndrome, Type 2E | Anosmia | OMIM:611584 | |
Bosma Arhinia Microphthalmia Syndrome | Anosmia, Choanal atresia, Aplasia of the nose | OMIM:603457 | |
Meningioma | Papilledema, Facial palsy, Abnormality of the sense of smell | ORPHA:2495 | |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies | Hyposmia | OMIM:618653 | |
Wilson Disease | Hyposmia, Decreased nerve conduction velocity | OMIM:277900 | |
Amoebiasis Due To Free-Living Amoebae | Hyposmia, Facial palsy | ORPHA:68 | |
Occipital Horn Syndrome | Abnormality of the sense of smell | ORPHA:198 | |
Leopard Syndrome 1 | Hyposmia, Depressed nasal ridge | OMIM:151100 | |
Charge Syndrome | Depressed nasal bridge, Facial palsy, Choanal atresia, Anosmia, Optic atrophy, Abnormal cranial n... | ORPHA:138 | |
Lacrimoauriculodentodigital Syndrome | Anosmia, Choanal atresia | ORPHA:2363 | |
Charge Syndrome | Facial palsy, 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 Carns1.
There are 2 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Pharmacokinetics and tissue distribution of orally administrated imidazole dipeptides in carnosine synthase gene knockout mice. | Bioscience, biotechnology, and biochemistry (August 2022) | Carns1tm1a(KOMP)Wtsi | 35641020 |
Carnosine synthase deficiency in mice affects protein metabolism in skeletal muscle. | Biochemical and biophysical research communications (April 2022) | Carns1tm1a(KOMP)Wtsi | 35500438 |
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 |
---|---|---|
Carns1tm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Carns1tm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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