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
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
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
Dermoid Cysts, Familial Frontonasal
Papilledema, Nasal congestion, Deviated nasal septum, Anosmia, Wide nasal bridge OMIM:600679
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Depressed nasal bridge, Anosmia OMIM:113480
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614838
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Short nasal septum, Anosmia OMIM:302950
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Choanal atresia, Aplasia/Hypoplasia involving the nose ORPHA:1135
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Orthostatic hypotension, Anosmia, Hyposmia OMIM:608720
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology, Hyposmia OMIM:613724
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Hyposmia OMIM:610628
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Hyperostosis Cranialis Interna
Optic atrophy, Facial palsy, Anosmia, Hyposmia OMIM:144755
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Anosmia, Abnormal autonomic nervous system physiology, Hyposmia OMIM:243000
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Abnormal cranial nerve morphology, Anosmia ORPHA:2057
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hyposmia OMIM:244200
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Frontalis muscle weakness, Anosmia, Wide nasal bridge OMIM:210745
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Hyposmia OMIM:147950
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Abnormal fifth cranial nerve morphology, Choanal atresia ORPHA:91412
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Pyriform aperture stenosis, Choanal atresia, Midnasal stenosis, ... OMIM:147250
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormality of the nares, Short nose, Anosmia ORPHA:1295
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
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
Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Anosmia OMIM:601152
Johnson Neuroectodermal Syndrome
Bulbous nose, Choanal atresia, Anosmia, Facial palsy ORPHA:2316
Huntington Disease
Abnormality of the sense of smell ORPHA:399
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Chronic rhinitis, Recurrent bronchitis, Absent outer dynein arms, Anosmia OMIM:244400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Johnson Neuroectodermal Syndrome
Facial palsy, Anosmia, Choanal stenosis OMIM:147770
Bardet-Biedl Syndrome 17
Anosmia, Hyposmia OMIM:615994
Refsum Disease, Classic
Anosmia OMIM:266500
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Kufor-Rakeb Syndrome
Anosmia, Hyposmia OMIM:606693
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Hyposmia OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Anosmia OMIM:308750
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Ichthyosis And Male Hypogonadism
Anosmia OMIM:308200
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Wide nose, Underdeveloped nasal alae ORPHA:284160
Refsum Disease
Anosmia ORPHA:773
Congenital Hypothyroidism
Optic atrophy, Anosmia, Depressed nasal ridge ORPHA:442
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Absent nares, Anosmia, Hyposmia ORPHA:2250
Septo-Optic Dysplasia Spectrum
Optic nerve hypoplasia, Septo-optic dysplasia, Anosmia ORPHA:3157
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Young-Onset Parkinson Disease
Abnormal autonomic nervous system physiology, Hyposmia ORPHA:2828
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Waardenburg Syndrome, Type 4C
Aganglionic megacolon, Anosmia OMIM:613266
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia ORPHA:2326
Kallmann Syndrome
Anosmia, Hyposmia ORPHA:478
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Hyposmia, Depressed nasal tip, Opti... ORPHA:2162
Moebius Syndrome
Abnormality of the sense of smell, Facial palsy ORPHA:570
8P11.2 Deletion Syndrome
Depressed nasal bridge, Anosmia ORPHA:251066
Hereditary Late-Onset Parkinson Disease
Orthostatic hypotension due to autonomic dysfunction, Hyposmia ORPHA:411602
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Aganglionic megacolon, ... OMIM:609136
Superficial Siderosis
Abnormality of the brachial nerve plexus, Abnormality of the vestibulocochlear nerve, Anosmia, Pa... ORPHA:247245
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Bosma Arhinia Microphthalmia Syndrome
Aplasia of the nose, Choanal atresia, Anosmia OMIM:603457
Meningioma
Abnormality of the sense of smell, Facial palsy, Papilledema ORPHA:2495
Amoebiasis Due To Free-Living Amoebae
Facial palsy, Hyposmia ORPHA:68
Wilson Disease
Decreased nerve conduction velocity, Hyposmia OMIM:277900
Leopard Syndrome 1
Depressed nasal ridge, Hyposmia OMIM:151100
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia OMIM:618653
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Charge Syndrome
Depressed nasal bridge, Optic atrophy, Abnormal cranial nerve morphology, Choanal atresia, Facial... ORPHA:138
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Anosmia ORPHA:2363
Charge Syndrome
Facial palsy, Choanal atresia, 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.

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

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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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