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
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Musk, Inability To Smell
Anosmia OMIM:254150
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia OMIM:617885
Aural Atresia, Congenital
Hyposmia OMIM:607842
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Dermoid Cysts, Familial Frontonasal
Deviated nasal septum, Nasal congestion, Anosmia, Papilledema, Wide nasal bridge OMIM:600679
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hyposmia, Anosmia OMIM:615267
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Anosmia, Depressed nasal bridge OMIM:113480
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia, Abnormal autonomic nervous system physiology OMIM:243000
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614838
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Short nasal septum, Short nose, Depressed nasal bridge OMIM:302950
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Hyposmia, Anosmia, Orthostatic hypotension OMIM:608720
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Abnormal motor neuron morphology OMIM:613724
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia, Abnormal cranial nerve morphology ORPHA:2057
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia OMIM:610628
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Frontalis muscle weakness, Anosmia, Wide nasal bridge OMIM:210745
Hyperostosis Cranialis Interna
Hyposmia, Facial palsy, Optic atrophy OMIM:144755
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Nasal polyposis, Anosmia, Pneumonia, Chronic rhinitis, Sinusit... OMIM:244400
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia OMIM:244200
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anosmia, Pyriform aperture stenosis, Choanal atresia, Midnasal s... OMIM:147250
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Choanal atresia OMIM:147950
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short nose, Abnormality of the nares ORPHA:1295
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia, Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor OMIM:601152
Johnson Neuroectodermal Syndrome
Anosmia, Facial palsy, Choanal atresia, Bulbous nose ORPHA:2316
Huntington Disease
Abnormality of the sense of smell ORPHA:399
Johnson Neuroectodermal Syndrome
Anosmia, Facial palsy, Choanal stenosis OMIM:147770
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Hydrolethalus
Abnormality of the sense of smell, Tracheal atresia, Laryngomalacia ORPHA:2189
Refsum Disease, Classic
Anosmia OMIM:266500
Kufor-Rakeb Syndrome
Anosmia, Hyposmia OMIM:606693
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Hyposmia OMIM:308700
Ichthyosis And Male Hypogonadism
Anosmia OMIM:308200
Campomelic Dysplasia
Tracheomalacia, Laryngomalacia, Tracheobronchomalacia, Abnormality of the sense of smell, Depress... ORPHA:140
Congenital Hypothyroidism
Anosmia, Sinusitis, Depressed nasal ridge, Optic atrophy, Tracheoesophageal fistula ORPHA:442
Refsum Disease
Anosmia ORPHA:773
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Underdeveloped nasal alae, Wide nose ORPHA:284160
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell, Tracheoesophageal fistula, Pulmonary hypoplasia, Abnormal lung... ORPHA:958
Kallmann Syndrome With Spastic Paraplegia
Anosmia OMIM:308750
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Anosmia, Optic nerve hypoplasia, Tracheoesophageal fistula ORPHA:3157
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Single naris, Hyposmia, Absent nares ORPHA:2250
Young-Onset Parkinson Disease
Hyposmia, Abnormal autonomic nervous system physiology ORPHA:2828
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Abnormal autonomic nervous system physiology, Long-segment aganglionic megacolon, Absent... OMIM:609136
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia, Pulmonary artery hypoplasia ORPHA:2326
Waardenburg Syndrome, Type 4C
Anosmia, Aganglionic megacolon OMIM:613266
Kallmann Syndrome
Anosmia, Hyposmia ORPHA:478
Holoprosencephaly
Depressed nasal tip, Anosmia, Choanal atresia, Aplasia/Hypoplasia of the lungs, Hyposmia, Depress... ORPHA:2162
Moebius Syndrome
Abnormality of the sense of smell, Facial palsy ORPHA:570
8P11.2 Deletion Syndrome
Anosmia, Depressed nasal bridge ORPHA:251066
Hereditary Late-Onset Parkinson Disease
Hyposmia, Orthostatic hypotension due to autonomic dysfunction ORPHA:411602
Bosma Arhinia Microphthalmia Syndrome
Aplasia of the nose, Anosmia, Choanal atresia, Paranasal sinus hypoplasia OMIM:603457
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Superficial Siderosis
Anosmia, Abnormality of the brachial nerve plexus, Partial anosmia, Abnormality of the vestibuloc... ORPHA:247245
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Pneumonia, Hyposmia, Facial palsy, Sinusitis ORPHA:68
Meningioma
Abnormality of the sense of smell, Papilledema, Facial palsy ORPHA:2495
Leopard Syndrome 1
Hyposmia, Depressed nasal ridge OMIM:151100
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia OMIM:618653
Charge Syndrome
Abnormal cranial nerve morphology, Anosmia, Choanal atresia, Laryngomalacia, Facial palsy, Optic ... ORPHA:138
Lacrimoauriculodentodigital Syndrome
Anosmia, Hypoplasia of the epiglottis, Choanal atresia ORPHA:2363
Charge Syndrome
Anosmia, Choanal atresia, Facial palsy, Posterior choanal atresia, Tracheoesophageal fistula 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.

No publications found that use IMPC mice or data for Carns1.

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MGI Allele Allele Type Produced
Carns1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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