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Gene: Atl3 MGI:1924270

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Gene Summary

Name:
atlastin GTPase 3
Synonyms:
4633402C03Rik,  5730596K20Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
small kidney Atl3em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Atl3em1(IMPC)Tcp HOM Early adult 0.00
small adrenal glands Atl3em1(IMPC)Tcp HOM Late adult 0.00
enlarged urinary bladder Atl3em1(IMPC)Tcp HOM Late adult 0.00
abnormal liver morphology Atl3em1(IMPC)Tcp HOM Late adult 0.00
enlarged prostate gland Atl3em1(IMPC)Tcp HOM Late adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

23 Images

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Eye Morphology

Images Ophthalmoscopy

50 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Slit Lamp

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Histopathology

Images

1 Images

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Human diseases caused by Atl3 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 Atl3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neuropathy, Hereditary Sensory, Type If
OMIM:615632
Hereditary Sensory And Autonomic Neuropathy Type 1
ORPHA:36386

The table below shows human diseases predicted to be associated to Atl3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... OMIM:201810
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... OMIM:201910
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism OMIM:202110
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism OMIM:613677
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:251274
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism ORPHA:369929
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... ORPHA:96181
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Increased urinary potassium, Glucocortoco... ORPHA:231580
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Nephrolithiasis, Prim... ORPHA:189427
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Oligozoospermi... ORPHA:786
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Ovotestis, Hypospadias, Sex reversal OMIM:611812
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Asplenia, Vaginal atresia, Urethral atresia, Adrenal gland agen... OMIM:273395
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus... OMIM:236680
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating ACTH level, Pancreatic endocrine tumor, Pheochromocytoma, Neoplasm of the t... ORPHA:99889
Cushing Disease
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased circulating ACTH level, Incr... ORPHA:96253
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia, Hydronephrosis, Nephrocalcinosis, Increased urine... ORPHA:79500
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Hereditary Sensory And Autonomic Neuropathy Type 1
ORPHA:36386
Neuropathy, Hereditary Sensory, Type If
OMIM:615632

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.

Phenotype Allele Zygosity Sex Life Stage
Sciatic nerve - MPATH pathological process term dysplasia Atl3em1(IMPC)Tcp HOM Late adult
Sciatic nerve - MPATH pathological process term hydropic degeneration Atl3em1(IMPC)Tcp HOM Late adult

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 Atl3.

No publications found that use IMPC mice or data for Atl3.

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
Atl3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Atl3em1(IMPC)Tcp Intra-exon deletion Mice, Tissue

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