Gene Summary

Name:
ER lipid raft associated 1
Synonyms:
Spfh1,  Keo4,  2810439N09Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal ovary morphology Erlin1em1(IMPC)Tcp HOM Late adult 0.00
increased circulating aspartate transaminase level Erlin1em1(IMPC)Tcp HOM Early adult 1.99×10-05
increased circulating potassium level Erlin1em1(IMPC)Tcp HOM Early adult 1.25×10-05
abnormal skin morphology Erlin1em1(IMPC)Tcp HOM Early adult 0.00
decreased bone mineral density Erlin1em1(IMPC)Tcp HOM Late adult 3.77×10-07
abnormal liver morphology Erlin1em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Erlin1em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Erlin1em1(IMPC)Tcp HOM Early adult 0.00
abnormal stomach morphology Erlin1em1(IMPC)Tcp HOM Early adult 0.00
small adrenal glands Erlin1em1(IMPC)Tcp HOM Early adult 0.00
abnormal seminal vesicle morphology Erlin1em1(IMPC)Tcp HOM Late adult 0.00
abnormal spleen morphology Erlin1em1(IMPC)Tcp HOM Early adult 0.00
enlarged urinary bladder Erlin1em1(IMPC)Tcp HOM Late adult 0.00
abnormal eye morphology Erlin1em1(IMPC)Tcp HOM Late adult 0.00
increased circulating alanine transaminase level Erlin1em1(IMPC)Tcp HOM Early adult 5.40×10-09
decreased lean body mass Erlin1em1(IMPC)Tcp HOM Early adult 8.84×10-06

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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.

Eye Morphology

Images Ophthalmoscopy

179 Images

Eye Morphology

Images Slit Lamp

168 Images

Eye Morphology

Images Slit Lamp

15 Images

Gross Pathology and Tissue Collection

Images

12 Images

Eye Morphology

Images Ophthalmoscopy

59 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Erlin1 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 Erlin1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Spastic Paraplegia Type 62
Knee flexion contracture ORPHA:401785
Spastic Paraplegia 62, Autosomal Recessive
OMIM:615681

The table below shows human diseases predicted to be associated to Erlin1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Failure to thrive, Increased... OMIM:610600
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Weight loss, Barr... ORPHA:70482
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Failur... OMIM:177735
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Failure to thrive, Increased... OMIM:203400
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... ORPHA:556037
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level OMIM:103900
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Congenital hypothyroidism, Failure to thrive, Cryptorchidism, Precoci... OMIM:614736
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Joint hyperflexibility ORPHA:1875
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... ORPHA:556030
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Weight loss, Abnormal circulating aldos... ORPHA:171876
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Failur... OMIM:264350
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Pseudohypoaldosteronism OMIM:145260
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Lymphadenopathy, Anemia, Malabsorption, Splenom... ORPHA:100025
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Premature Ovarian Failure 2B
Osteoporosis, Premature ovarian insufficiency OMIM:300604
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Anemia, Hyperbilirubinemia, Gastric varix... ORPHA:64743
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary ... ORPHA:404
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Hepatic Adenomas, Familial
Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice OMIM:608885
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614495
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, D... ORPHA:403
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Osteopenia ORPHA:397685
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Type I diabetes mellitus, Premature ovarian insuffici... ORPHA:85138
Mirage Syndrome
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Leukopenia, Anemia, Achalasia, Esophageal stri... OMIM:617053
Senior-Loken Syndrome
Abnormality of bone mineral density, Nephronophthisis, Congenital hepatic fibrosis, Stage 5 chron... ORPHA:3156
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Failure to thrive, Multiple gastric polyps... OMIM:174900
Ménétrier Disease
Hypoproteinemia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morpholog... ORPHA:2494
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614496
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Increased serum testosterone level, Increa... ORPHA:90791
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hyperammonemia, Splenomegaly ORPHA:664
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Familial Hypoaldosteronism
Hyperkalemia, Decreased circulating aldosterone level, Adrenal insufficiency, Hyponatremia, Failu... ORPHA:427
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Hypoplasia of the ovary, Premature ovarian insufficiency... OMIM:609993
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Small for gestational age, Hypokalemia, Failure to thriv... OMIM:218030
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise ORPHA:57
Familial Glucocorticoid Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal ... ORPHA:361
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive p... ORPHA:231580
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Follicular t... ORPHA:319487
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin sy... ORPHA:90790
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Adenomatous colonic polyposis, Biliary tract neoplasm, Pa... ORPHA:157798
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Ovarian Fibroma
Abnormality of the ovary, Peritonitis, Ovarian fibroma, Gonadal calcification, Mesenteric cyst ORPHA:314473
Acute Adrenal Insufficiency
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Androgen insufficiency, Hype... ORPHA:95409
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ... ORPHA:251274
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Microvesicular hepatic steatosis, Cachexia, Esophageal varix, Hepatic... ORPHA:275761
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Chronic noni... ORPHA:97290
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia ORPHA:682
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Hypomagnese... OMIM:175500
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Weight loss, Anemia, Abnormality of the lymph nodes, Abnorma... ORPHA:54251
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Abnormality of the Leydig cells, Hyponatre... ORPHA:289548
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Conjugated hyperbilir... ORPHA:234
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Aplasia of the thymus, Failure to thrive, Lymph node hypoplasia OMIM:602450
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Abnormality of the Leydig cells, Hyponatre... ORPHA:168558
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypocalcemia, Incre... OMIM:601198
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Vipoma
Increased circulating cortisol level, Normochromic anemia, Primary hyperparathyroidism, Diabetes ... ORPHA:97282
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Hyperthyroidism, Weight loss, Goiter OMIM:613239
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Weight loss, Goiter OMIM:188580
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Premature Ovarian Failure 16
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... OMIM:618723
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular v... OMIM:611590
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Premature Ovarian Failure 5
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... OMIM:611548
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia, Abnormal stomach morphology, Hypogonadism, Cryptorchidism ORPHA:281090
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
Liddle Syndrome 1
Decreased circulating aldosterone level, Hypokalemia, Decreased circulating renin level OMIM:177200
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Weight loss,... ORPHA:79102
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymph node hypoplasia, Increased circulating inosine concentration, Neutropenia in ... OMIM:613179
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypothyroidism, Hyp... OMIM:256300
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Urinary retention, Polycystic ovaries, Dysuria, Abnormality of the uret... ORPHA:2795
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Diabetes mel... OMIM:615830
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Cystinosis
Hypokalemia, Failure to thrive, Hypophosphatemia, Malabsorption, Nephrogenic diabetes insipidus, ... ORPHA:213
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Peritonitis, Ovarian fibroma, Gonadal c... ORPHA:314478
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Leukopenia, Abnormal circulating lipid concentration, Lymphadenop... ORPHA:381
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Dysphagia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circ... ORPHA:94093
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Premature Ovarian Failure 8
Ovarian neoplasm, Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615723
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Liddle Syndrome 3
Hypokalemia OMIM:618126
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... OMIM:615954
Cystic Echinococcosis
Hepatomegaly, Bone cyst, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Biliary tract ... ORPHA:400
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Clitoral hypertrophy, Premature ovarian ... OMIM:612964
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Villous atrophy, Ileoileal intussusception, Hypokalemia, Portal... OMIM:619377
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Streak ovary, Osteopenia, Reduced bone mineral density, Increas... ORPHA:243
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... ORPHA:786
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hypochloremia, Hyponatremia, Hypokalemia OMIM:300971
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Failure to thrive, Hypochloremia... OMIM:214700
Diabetes Insipidus, Neurohypophyseal, X-Linked
Central diabetes insipidus, Hypokalemia OMIM:304900
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Failu... ORPHA:276
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypokalemia, Decreased circulating renin level, Failure ... ORPHA:320
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, High palate, Cleft palate, Small for gestational age, Maturity-onset diabetes o... ORPHA:96184
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... ORPHA:90794
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Leukocytosis, Rectal prolapse, Unconjugated hyperbilirubinemia, Schistocytosis, Hyp... ORPHA:90038
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Neoplasm of the adrenal gland, Hypokalemia, Decreased circulating renin level, Increased circulat... ORPHA:231625
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Lymph node hypoplasia, Epididymitis, Septic arthritis OMIM:300755
Oculogastrointestinal Muscular Dystrophy
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophage... ORPHA:1876
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... ORPHA:263665
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated circulating crea... ORPHA:85450
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Leukocytosis, Gastrointestinal infarctions, Acute colitis, Intestinal... ORPHA:544482
Mccune-Albright Syndrome
Renal tubular dysfunction, Goiter, Fibrous dysplasia of the bones, Hepatitis, Monostotic fibrous ... ORPHA:562
Scleroderma
Abnormal large intestine morphology, Abnormality of the small intestine, Elevated circulating cre... ORPHA:801
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Fanconi-Bickel Syndrome
Hypouricemia, Hypokalemia, Failure to thrive, Hypophosphatemia, Malabsorption OMIM:227810
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive prim... ORPHA:231632
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis, Elevated circulating creatine kinase concentration OMIM:616924
Liddle Syndrome
Hypokalemia ORPHA:526
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Cleft palate, Congenital adrenal hyperplasia, Thrombocytopeni... ORPHA:96181
Hepatocellular Carcinoma
Esophageal varix, Hemobilia, Abnormality of the hepatic vasculature, Portal hypertension, Liver a... ORPHA:88673
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia OMIM:602722
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Failure to thrive OMIM:179010
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Adrenocorticotropic hormone... ORPHA:91348
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Elevated circulating creatine kinase concentration, Fa... OMIM:613327
Pancreatoblastoma
Weight loss, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormality of ... ORPHA:677
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Asplenia, Failure to thrive, Splenogonadal fusion, Intestina... OMIM:156810
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Increased circulating androstenedione concentration, Testicul... ORPHA:90795
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Elevated circ... ORPHA:90291
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Hypophosphatemia, Splenomegaly, Steatorrhea, Diabetes mellitu... ORPHA:699
Bronchogenic Cyst
Dysphagia, Abnormality of the peritoneum, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Premature Ovarian Failure 6
Streak ovary, Elevated circulating follicle stimulating hormone level, Premature ovarian insuffic... OMIM:612310
Premature Ovarian Failure 18
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... OMIM:619203
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... ORPHA:3130
Perrault Syndrome 4
Osteoporosis, Hypoplasia of the ovary, Increased circulating gonadotropin level, Bicornuate uteru... OMIM:615300
Chronic Granulomatous Disease
Pyloric stenosis, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly, Tracheo... ORPHA:379
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormality of the Leydig cells, Hypogonadotropic hypogonadism, Microp... OMIM:228300
Ovarian Dysgenesis 9
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... OMIM:619665
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia, Elevated maternal serum alpha-fetoprotein OMIM:226730
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism ORPHA:199343
Hardikar Syndrome
Cholangitis, Esophageal varix, Decreased serum insulin-like growth factor 1, Intrahepatic bile du... OMIM:301068
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Ethylene Glycol Poisoning
Gastritis, Hyperkalemia, Hypocalcemia ORPHA:31826
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Perineal fistula, Abnormality of the spleen, Hepatomegaly, Rectovaginal fistula, Fa... ORPHA:2538
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstruction, Congenital short... OMIM:300048
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Neoplasm of the thymus, Small intestine ... ORPHA:99889
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Immunodeficiency 87 And Autoimmunity
Hemolytic anemia, Hepatomegaly, Cleft palate, Villous atrophy, Elevated circulating C-reactive pr... OMIM:619573
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... ORPHA:95699
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis, Cryptorchidism, Mildly elevated creatine kinase, Large for gestational age ORPHA:169189
Gastrointestinal Stromal Tumor
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... ORPHA:44890
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Melena, Thromb... ORPHA:340
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hepatic fibrosis, Hypogonadism, Vaginal atresia, Micropenis, Left ventr... OMIM:209900
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Fraser-Like Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst OMIM:229230
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Epidermolysis Bullosa, Junctional, Herlitz Type
Pyloric stenosis, Failure to thrive OMIM:226700
Colchicine Poisoning
Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... ORPHA:31824
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hypokalemia, Hyperaldosteronism, Hyperchloriduria, Increase... OMIM:607364
Tetraamelia Syndrome 1
Adrenal gland agenesis, Cleft palate, Asplenia, Anal atresia OMIM:273395
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Nelson Syndrome
Increased urinary cortisol level, Increased circulating prolactin concentration, Type II diabetes... ORPHA:199244
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Hypocalcemia, Thrombocytopenia,... ORPHA:466650
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism OMIM:612780
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... ORPHA:91347
Reynolds Syndrome
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Cirrhosis, Gastroesophag... ORPHA:779
Helix Syndrome
Xerostomia, Hypermagnesemia, Hyperparathyroidism, Hypokalemia OMIM:617671
Rabson-Mendenhall Syndrome
Increased serum testosterone level, High palate, Hypokalemia, Macroglossia, Insulin-resistant dia... ORPHA:769
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hyperactive renin-angiotensin system, Hypokalemia, Small for gestational age, Incr... OMIM:601678
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... ORPHA:512
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Failure to thrive, Mal... OMIM:601095
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decr... OMIM:615577
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Cleft palate OMIM:611812
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Pituitary adenoma, Abdominal obesity, Obesity, Increased circulating ACTH level OMIM:219090
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypoalbuminemia, Thrombocytopenia, Hypokalemia, Leukopenia, Lymphadenopathy, Ele... ORPHA:99826
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis ORPHA:722
Cushing Disease
Adrenal hyperplasia, Leukocytosis, Increased urinary cortisol level, Increased circulating cortis... ORPHA:96253
Cholera
Hyponatremia, Hypokalemia, Achlorhydria, Hypocalcemia, Abnormal blood ion concentration ORPHA:173
Gitelman Syndrome
Hypokalemia, Failure to thrive, Hypomagnesemia, Increased circulating renin level, Delayed puberty OMIM:263800
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Failure to thrive, Elevated circula... ORPHA:411634
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Small for gestational age, Failu... ORPHA:89938
Leprechaunism
Central hypothyroidism, Megarectum, Rectal prolapse, Hepatomegaly, Hypokalemia, Failure to thrive... ORPHA:508
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Hydrolethalus Syndrome 1
Accessory spleen, Cleft palate, Adrenal gland dysgenesis OMIM:236680
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... ORPHA:141127
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Cleft palate, Hypokalemia OMIM:170390
Infantile Nephropathic Cystinosis
Hypokalemia, Failure to thrive, Hypophosphatemia, Abnormality of thyroid physiology, Abnormal blo... ORPHA:411629
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Primary hyperaldosteronism, Hypokalemia, Iron defic... ORPHA:358
Esophageal Atresia
Pyloric stenosis, Dysphagia, Cleft palate, Maternal diabetes, Duodenal atresia, Morphological abn... ORPHA:1199
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hypokalemia, Small for gestational age, Increased serum pro... OMIM:241200
Hennekam Syndrome
Pyloric stenosis, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Malabsorption, Splen... ORPHA:2136
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypokalemia, Weight loss, Hypophosphatemia, Hyperuricosuria, Decreased plasma carni... ORPHA:3337
Mercury Poisoning
Hypokalemia ORPHA:330021
Turner Syndrome
Abnormality of the ovary, Horseshoe kidney, Hepatic fibrosis, Gonadoblastoma, Osteoporosis, High ... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Horseshoe kidney, Hepatic fibrosis, Gonadoblastoma, Osteoporosis, High ... ORPHA:99413
Mosaic Monosomy X
Abnormality of the ovary, Horseshoe kidney, Hepatic fibrosis, Gonadoblastoma, Osteoporosis, High ... ORPHA:99228
Monosomy X
Abnormality of the ovary, Horseshoe kidney, Hepatic fibrosis, Gonadoblastoma, Osteoporosis, High ... ORPHA:99226
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Diabetes insipidus, Hypokalemia, Thrombocytopenia, Failure to thrive, Hypophosphate... ORPHA:534
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Congenital pyloric atresia ORPHA:158684
Ulnar-Mammary Syndrome
Pyloric stenosis, Hypoplastic nipples, Ectopic anus, Anal atresia, Breast aplasia, Obesity, Crypt... ORPHA:3138
Doors Syndrome
Adrenal hyperplasia, Thrombocytosis, High palate, Cleft palate, Congenital hypothyroidism, Narrow... ORPHA:79500
Proximal Renal Tubular Acidosis
Hypokalemia, Failure to thrive, Malabsorption, Hyperuricosuria, Bicarbonaturia ORPHA:47159
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Acute pancreatitis, Hypokalemia, Increased circula... ORPHA:466677
Distal Renal Tubular Acidosis
Failure to thrive, Hemolytic anemia, Hypokalemia ORPHA:18
Ulnar-Mammary Syndrome
Pyloric stenosis, Hypoplastic nipples, Axillary apocrine gland hypoplasia, Anal atresia, Anterior... OMIM:181450
Viss Syndrome
High, narrow palate, Dysphagia, High palate, Malposition of the stomach, Celiac disease, Macroglo... OMIM:619472
Williams Syndrome
Hypercalcemia, Failure to thrive in infancy, Rectal prolapse, Type II diabetes mellitus, Abnormal... ORPHA:904
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormal intestine morphology, Gastrointestinal infarctions, Hypokalemia, Cr... ORPHA:286
Autosomal Recessive Spastic Paraplegia Type 62
Knee flexion contracture ORPHA:401785
Spastic Paraplegia 62, Autosomal Recessive
OMIM:615681

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 Erlin1

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 Erlin1.

No publications found that use IMPC mice or data for Erlin1.

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MGI Allele Allele Type Produced
Erlin1em1(IMPC)Tcp Exon Deletion Mice
Erlin1tm79023(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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