Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
carnosine synthase 1
Synonyms:
Atpgd1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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.

Phenotype associated images not available

Human diseases caused by Carns1 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.

No human diseases associated to this gene by orthology or annotation.

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
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell ORPHA:1135
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
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Bifid nose, Anosmia, Hyposmia OMIM:614838
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Short nasal septum, Short nose OMIM:302950
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia OMIM:619755
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Hyposmia OMIM:613724
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Hyposmia OMIM:610628
Hyperostosis Cranialis Interna
Anosmia, Facial palsy, Optic atrophy, Hyposmia OMIM:144755
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Anosmia, Abnormal autonomic nervous system physiology, Hyposmia OMIM:243000
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Abnormality of the sense of smell OMIM:229070
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia OMIM:614879
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hyposmia OMIM:244200
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia, 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 2 With Or Without Anosmia
Choanal atresia, Anosmia, Hyposmia OMIM:147950
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
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
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Midnasal stenosis, Abnormal nasopharynx morphology, Pyriform aperture s... OMIM:147250
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Abnormal nostril morphology, Short nose ORPHA:1295
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia, Optic disc pallor, Decreased motor nerve conduction velocity, Optic atrophy OMIM:601152
Huntington Disease
Abnormality of the sense of smell ORPHA:399
Johnson Neuroectodermal Syndrome
Choanal atresia, Facial palsy, Anosmia, Bulbous nose ORPHA:2316
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Absent outer dynein arms, Chronic rhinitis OMIM:244400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Kleine-Levin Syndrome
Parosmia ORPHA:33543
Bardet-Biedl Syndrome 17
Anosmia, Hyposmia OMIM:615994
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Hyposmia 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
Anosmia, Hyposmia 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
Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose ORPHA:284160
Refsum Disease
Anosmia ORPHA:773
Septo-Optic Dysplasia Spectrum
Anosmia, Septo-optic dysplasia, Optic nerve hypoplasia ORPHA:3157
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Absent nares, Single naris, Hyposmia ORPHA:2250
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Young-Onset Parkinson Disease
Abnormal autonomic nervous system physiology, Hyposmia 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
Anosmia, Hyposmia ORPHA:478
Moebius Syndrome
Facial palsy, Abnormality of the sense of smell ORPHA:570
Holoprosencephaly
Choanal atresia, Depressed nasal ridge, Anosmia, Optic atrophy, Aplasia/Hypoplasia involving the ... ORPHA:2162
Gorlin Syndrome
Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Aganglionic me... OMIM:609136
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Superficial Siderosis
Anosmia, Abnormality of the vestibulocochlear nerve, Partial anosmia, Abnormality of the brachial... ORPHA:247245
8P11.2 Deletion Syndrome
Depressed nasal bridge, Anosmia ORPHA:251066
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Hyposmia ORPHA:411602
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Aplasia of the nose, Anosmia OMIM:603457
Meningioma
Papilledema, Abnormality of the sense of smell, Facial palsy ORPHA:2495
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia OMIM:618653
Amoebiasis Due To Free-Living Amoebae
Facial palsy, Hyposmia ORPHA:68
Leopard Syndrome 1
Depressed nasal ridge, Hyposmia OMIM:151100
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Bardet-Biedl Syndrome
Depressed nasal bridge, Prominent nasal bridge, Abnormality of the sense of smell, Aganglionic me... ORPHA:110
Charge Syndrome
Depressed nasal bridge, Choanal atresia, Anosmia, Optic atrophy, Abnormal cranial nerve morpholog... ORPHA:138
Wilson Disease
Decreased nerve conduction velocity, Hyposmia OMIM:277900
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Anosmia ORPHA:2363
Charge Syndrome
Choanal atresia, Facial palsy, Anosmia OMIM:214800

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 Carns1

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 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

Order Mouse and ES Cells

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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