Gene: Lrsam1 MGI:2684789

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Gene Summary

Name:
leucine rich repeat and sterile alpha motif containing 1
Synonyms:
N/A

IMPC Data Collections

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.

Select physiological systems to view:
Viewing: all phenotypes

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 Lrsam1 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.

The table below shows human diseases associated to Lrsam1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2P
OMIM:614436

The table below shows human diseases predicted to be associated to Lrsam1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hereditary Liability to Pressure Palsies (HNPP)
DECIPHER:31
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
OMIM:162600
Amyotrophic Lateral Sclerosis 4, Juvenile
OMIM:602433
Charcot-Marie-Tooth Disease, Type 4J
OMIM:611228
Slowed Nerve Conduction Velocity, Autosomal Dominant
OMIM:608236
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
DECIPHER:29
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
OMIM:607734
Charcot-Marie-Tooth Disease, Dominant Intermediate B
OMIM:606482
Neuronopathy, Distal Hereditary Motor, Type Vb
OMIM:614751
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
OMIM:601098
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
OMIM:605589
Triose Phosphate-Isomerase Deficiency
ORPHA:868
Neuropathy, Hereditary Motor And Sensory, Russe Type
OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2L
OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Type 2P
OMIM:614436
Charcot-Marie-Tooth Disease, Type 4C
OMIM:601596
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
OMIM:605253
Charcot-Marie-Tooth Disease, Type 4A
OMIM:214400
Neuropathy, Hereditary, With Liability To Pressure Palsies
OMIM:162500
Charcot-Marie-Tooth Disease, Recessive Intermediate C
OMIM:615376
Chronic Inflammatory Demyelinating Polyneuropathy
ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
OMIM:605588
Monomelic Amyotrophy
ORPHA:65684
Charcot-Marie-Tooth Disease, Axonal, Type 2O
OMIM:614228
Charcot-Marie-Tooth Disease, Type 4B1
OMIM:601382
Giant Axonal Neuropathy 2, Autosomal Dominant
OMIM:610100
Hereditary Neuropathy With Liability To Pressure Palsies
ORPHA:640
Parkinsonism With Polyneuropathy
OMIM:619279
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
OMIM:618912
Charcot-Marie-Tooth Disease, Axonal, Type 2N
OMIM:613287
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
OMIM:607678
Charcot-Marie-Tooth Disease, Axonal, Type 2B
OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
OMIM:609260
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
OMIM:607706
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
ORPHA:457205
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
OMIM:608895
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
OMIM:302801
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
OMIM:604484
Charcot-Marie-Tooth Disease, Type 4D
OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, Type 2K
OMIM:607831
Charcot-Marie-Tooth Disease Type 1B
ORPHA:101082
Roussy-Levy Hereditary Areflexic Dystasia
OMIM:180800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
OMIM:618138
Neuronopathy, Distal Hereditary Motor, Type Vc
OMIM:619112
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
OMIM:608720
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
ORPHA:99944
Charcot-Marie-Tooth Disease, Type 4H
OMIM:609311
Null Syndrome
ORPHA:280234
Neuropathy, Congenital Hypomyelinating, 2
OMIM:618184
Charcot-Marie-Tooth Disease, Type 4B3
OMIM:615284
Hereditary Motor And Sensory Neuropathy V
OMIM:600361
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
OMIM:183050
Charcot-Marie-Tooth Disease, Axonal, Type 2F
OMIM:606595
Autosomal Recessive Spastic Paraplegia Type 57
ORPHA:431329
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2S
OMIM:616155
Leukodystrophy, Hypomyelinating, 18
OMIM:618404
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
OMIM:614895
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
OMIM:302800
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
OMIM:118220
Neuronopathy, Distal Hereditary Motor, Type Iid
OMIM:615575
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
OMIM:604168
Ataxia-Deafness-Intellectual Disability Syndrome
ORPHA:1188
Early-Onset X-Linked Optic Atrophy
ORPHA:98890
Cataract-Ataxia-Deafness Syndrome
ORPHA:1368
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
ORPHA:99939
Amyotrophy, Hereditary Neuralgic
OMIM:162100
Motor Neuropathy, Peripheral, With Dysautonomia
OMIM:252320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
OMIM:118200
X-Linked Charcot-Marie-Tooth Disease Type 6
ORPHA:352675
X-Linked Charcot-Marie-Tooth Disease Type 4
ORPHA:101078
Krabbe Disease
OMIM:245200
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
OMIM:162400
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
OMIM:605726
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
OMIM:302802
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
OMIM:604320
Hypertrophic Neuropathy Of Dejerine-Sottas
OMIM:145900
Charcot-Marie-Tooth Disease Type 1A
ORPHA:101081
Metachromatic Leukodystrophy Due To Saposin B Deficiency
OMIM:249900
Distal Hereditary Motor Neuropathy Type 5
ORPHA:139536
Charcot-Marie-Tooth Disease, Axonal, Type 2R
OMIM:615490
Autosomal Recessive Spastic Paraplegia Type 21
ORPHA:101001
X-Linked Charcot-Marie-Tooth Disease Type 1
ORPHA:101075
Charcot-Marie-Tooth Disease Type 4G
ORPHA:99953
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
ORPHA:139578
Wild Type Abeta2M Amyloidosis
ORPHA:85446
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
OMIM:615157
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
OMIM:601170
Charcot-Marie-Tooth Disease, Type 4B2
OMIM:604563
X-Linked Charcot-Marie-Tooth Disease Type 3
ORPHA:101077
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
OMIM:618400
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
ORPHA:2928
Neurodegeneration With Brain Iron Accumulation 2A
OMIM:256600
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
OMIM:118301
Amyotrophic Lateral Sclerosis 21
OMIM:606070
Charcot-Marie-Tooth Disease And Deafness
OMIM:118300
Combined Oxidative Phosphorylation Deficiency 13
OMIM:614932
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
OMIM:208920
Combined Oxidative Phosphorylation Defect Type 29
ORPHA:478029
Ataxia-Pancytopenia Syndrome
OMIM:159550
Multifocal Motor Neuropathy
ORPHA:641
Mitochondrial Dna Depletion Syndrome 18
OMIM:618811
X-Linked Charcot-Marie-Tooth Disease Type 5
ORPHA:99014
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
OMIM:618356
Acromicric Dysplasia
ORPHA:969
Charcot-Marie-Tooth Disease, Axonal, Type 2E
OMIM:607684
Combined Oxidative Phosphorylation Deficiency 29
OMIM:616811
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
OMIM:218000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
ORPHA:435387
Neuronal Intranuclear Inclusion Disease
OMIM:603472
Lower Motor Neuron Syndrome With Late-Adult Onset
ORPHA:276435
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
OMIM:612674
Charcot-Marie-Tooth Disease Type 4D
ORPHA:99950
Autosomal Dominant Spastic Paraplegia Type 17
ORPHA:100998
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
OMIM:201300
Digital Extensor Muscle Aplasia-Polyneuropathy
ORPHA:2926
Autosomal Recessive Spastic Paraplegia Type 25
ORPHA:101005
Leukodystrophy, Hypomyelinating, 2
OMIM:608804
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
OMIM:256840
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
ORPHA:88628
Roussy-Lévy Syndrome
ORPHA:3115
Hereditary Motor And Sensory Neuropathy, Okinawa Type
ORPHA:90117
Spinocerebellar Ataxia 10
OMIM:603516
Cednik Syndrome
ORPHA:66631
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
ORPHA:48431
Angioedema, Hereditary, 1
OMIM:106100
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
ORPHA:485421
Spinocerebellar Ataxia Type 1
ORPHA:98755
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
ORPHA:1933
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
OMIM:601152
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
OMIM:615419
Combined Oxidative Phosphorylation Defect Type 39
ORPHA:565624
Vocal Cord And Pharyngeal Distal Myopathy
ORPHA:600
Adrenomyeloneuropathy
ORPHA:139399
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
OMIM:619026
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
ORPHA:397744
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
OMIM:238970
Combined Oxidative Phosphorylation Defect Type 13
ORPHA:319514
Hurler-Scheie Syndrome
ORPHA:93476
Spastic Ataxia, Charlevoix-Saguenay Type
OMIM:270550
Lethal Congenital Contracture Syndrome 5
OMIM:615368
Late-Infantile/Juvenile Krabbe Disease
ORPHA:206443
Sialidosis Type 1
ORPHA:812
Leukodystrophy, Hypomyelinating, 5
OMIM:610532
Adult-Onset Distal Myopathy Due To Vcp Mutation
ORPHA:329478
Mitochondrial Neurogastrointestinal Encephalomyopathy
ORPHA:298
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
OMIM:609136
Neuromuscular Oculoauditory Syndrome
OMIM:618733
Spinocerebellar Ataxia 1
OMIM:164400
Metachromatic Leukodystrophy
OMIM:250100
Yuan-Harel-Lupski Syndrome
OMIM:616652
Charcot-Marie-Tooth Disease Type 1F
ORPHA:101085
Lethal Ataxia With Deafness And Optic Atrophy
ORPHA:1187
Xeroderma Pigmentosum, Complementation Group B
OMIM:610651
Mohr-Tranebjaerg Syndrome
OMIM:304700
Posterior Column Ataxia With Retinitis Pigmentosa
OMIM:609033
Cerebrotendinous Xanthomatosis
ORPHA:909
Infantile Neuroaxonal Dystrophy
ORPHA:35069
Warburg Micro Syndrome 4
OMIM:615663
X-Linked Charcot-Marie-Tooth Disease Type 2
ORPHA:101076
Friedreich Ataxia
OMIM:229300
Infantile Krabbe Disease
ORPHA:206436
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
ORPHA:168563
Kanzaki Disease
OMIM:609242
Autosomal Recessive Spastic Paraplegia Type 55
ORPHA:320375
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
ORPHA:477817
Friedreich Ataxia
ORPHA:95
Scheie Syndrome
ORPHA:93474
Metachromatic Leukodystrophy, Late Infantile Form
ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
ORPHA:309263
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
OMIM:606002
Chediak-Higashi Syndrome
OMIM:214500
Peroxisome Biogenesis Disorder 4B
OMIM:614863
Classic Pantothenate Kinase-Associated Neurodegeneration
ORPHA:216866
Huntington Disease-Like 1
ORPHA:157941
Metachromatic Leukodystrophy, Adult Form
ORPHA:309271
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
ORPHA:466768
Methylmalonic Aciduria And Homocystinuria, Cblj Type
OMIM:614857
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
ORPHA:456312
Dystonia 1, Torsion, Autosomal Dominant
OMIM:128100
Cockayne Syndrome A
OMIM:216400
Cockayne Syndrome B
OMIM:133540
Chédiak-Higashi Syndrome
ORPHA:167
D-Bifunctional Protein Deficiency
OMIM:261515
Japanese Encephalitis
ORPHA:79139
Multiple Sulfatase Deficiency
ORPHA:585
Charcot-Marie-Tooth Disease Type 1E
ORPHA:90658
Metachromatic Leukodystrophy
ORPHA:512
Cockayne Syndrome
ORPHA:191
Sporadic Infantile Bilateral Striatal Necrosis
ORPHA:225147
Mucopolysaccharidosis Type 2
ORPHA:580
Cockayne Syndrome Type 1
ORPHA:90321
Sandifer Syndrome
ORPHA:71272
Poliomyelitis
ORPHA:2912
Hereditary Motor And Sensory Neuropathy, Type Iic
OMIM:606071
Hurler Syndrome
ORPHA:93473
Charcot-Marie-Tooth Disease Type 4C
ORPHA:99949
Congenital Disorder Of Deglycosylation
OMIM:615273
Vici Syndrome
OMIM:242840
Cockayne Syndrome Type 3
ORPHA:90324
Hypermobile Ehlers-Danlos Syndrome
ORPHA:285
Unilateral Polymicrogyria
ORPHA:268943
Friedreich Ataxia 2
OMIM:601992
Hereditary Sensory And Autonomic Neuropathy Type 4
ORPHA:642
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
OMIM:302900
Choreoacanthocytosis
ORPHA:2388
Friedreich Ataxia And Congenital Glaucoma
OMIM:229310

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 Lrsam1

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 Lrsam1.

No publications found that use IMPC mice or data for Lrsam1.

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MGI Allele Allele Type Produced
Lrsam1em1(IMPC)Bay Inter-exon deletion Mice
Lrsam1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Lrsam1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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