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Gene: Atl1 MGI:1921241

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
atlastin GTPase 1
Synonyms:
FSP1,  SPG3,  AD-FSP,  Spg3a

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Atl1 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 Atl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spastic Paraplegia 3, Autosomal Dominant
Degeneration of the lateral corticospinal tracts OMIM:182600
Autosomal Dominant Spastic Paraplegia Type 3
Tip-toe gait, Gait disturbance, Spastic gait ORPHA:100984
Hereditary Sensory And Autonomic Neuropathy Type 1
Inability to walk, Steppage gait, Gait imbalance ORPHA:36386
Neuropathy, Hereditary Sensory, Type Id
Autoamputation of digits OMIM:613708

The table below shows human diseases predicted to be associated to Atl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
Kimura Disease
Abnormal salivary gland morphology ORPHA:482
Gerstmann-Straussler-Scheinker Syndrome
Abnormal pyramidal tract morphology ORPHA:356
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy OMIM:551500
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal pyramidal tract morphology ORPHA:83629
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue ORPHA:314652
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts OMIM:312920
Adult Krabbe Disease
Abnormal pyramidal tract morphology, Abnormal corticospinal tract morphology ORPHA:206448
Spastic Paraplegia 8, Autosomal Dominant
Degeneration of the lateral corticospinal tracts OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts OMIM:600363
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts OMIM:105400
Spastic Paraplegia 3, Autosomal Dominant
Degeneration of the lateral corticospinal tracts OMIM:182600
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts ORPHA:320355
Autosomal Dominant Spastic Paraplegia Type 73
Degeneration of the lateral corticospinal tracts ORPHA:444099
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Agenesis of corpus callosum OMIM:307000
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Spastic Paraplegia 4, Autosomal Dominant
Degeneration of the lateral corticospinal tracts OMIM:182601
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts ORPHA:171863
Autosomal Dominant Spastic Paraplegia Type 37
Degeneration of the lateral corticospinal tracts ORPHA:171612
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Degeneration of the lateral corticospinal tracts ORPHA:275872
Spastic Paraplegia 11, Autosomal Recessive
Agenesis of corpus callosum, Degeneration of the lateral corticospinal tracts OMIM:604360
Narp Syndrome
Corticospinal tract atrophy ORPHA:644
Igg4-Related Submandibular Gland Disease
Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland,... ORPHA:449432
Autosomal Dominant Spastic Paraplegia Type 8
Degeneration of the lateral corticospinal tracts ORPHA:100989
Autosomal Dominant Spastic Paraplegia Type 19
Degeneration of the lateral corticospinal tracts ORPHA:100999
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts ORPHA:171617
Spastic Paraplegia 7, Autosomal Recessive
Degeneration of the lateral corticospinal tracts OMIM:607259
Muir-Torre Syndrome
Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Agenesis of corpus callosum ORPHA:255138
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Nodular goiter, Siala... ORPHA:64744
Al Amyloidosis
Macroglossia, Abnormal salivary gland morphology, Xerostomia ORPHA:85443
Autosomal Dominant Spastic Paraplegia Type 12
Degeneration of the lateral corticospinal tracts ORPHA:100993
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Nodular goiter, Abnormal sali... ORPHA:79078
Smith-Magenis Syndrome
Corticospinal tract hypoplasia ORPHA:819
Melioidosis
Abnormal parotid gland morphology, Parotitis ORPHA:31202
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agenesis of corpus callosum, Hypoplasia of the pyramidal tract OMIM:253800
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... ORPHA:2363
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... ORPHA:2298
Autosomal Dominant Spastic Paraplegia Type 3
Tip-toe gait, Gait disturbance, Spastic gait ORPHA:100984
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology ORPHA:252164
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se... OMIM:604292
Adrenomyeloneuropathy
Atrophy/Degeneration involving the corticospinal tracts ORPHA:139399
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Abnormal salivary gland morphology OMIM:181000
Igg4-Related Ophthalmic Disease
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Colon cancer, Sialaden... ORPHA:449563
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Blau Syndrome
Abnormal salivary gland morphology, Xerostomia ORPHA:90340
Igg4-Related Kidney Disease
Sialadenitis, Abnormality of the anterior pituitary ORPHA:449395
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding ORPHA:252183
Williams Syndrome
Cryptorchidism, Atrophy/Degeneration involving the corticospinal tracts ORPHA:904
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Oral ulcer ORPHA:50918
Sarcoidosis
Enlargement of parotid gland, Enlarged lacrimal glands, Parotitis ORPHA:797
Hereditary Sensory And Autonomic Neuropathy Type 1
Inability to walk, Steppage gait, Gait imbalance ORPHA:36386
Neuropathy, Hereditary Sensory, Type Id
Autoamputation of digits OMIM:613708

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 Atl1

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 Atl1.

No publications found that use IMPC mice or data for Atl1.

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MGI Allele Allele Type Produced
Atl1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Atl1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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