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Gene: Snapin MGI:1333745

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Gene Summary

Name:
SNAP-associated protein
Synonyms:
Snap25bp,  Snapap,  Bloc1s7

Order Alleles

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
fused cornea and lens Snapintm1.1(KOMP)Vlcg HET Early adult 8.52×10-05
embryonic lethality prior to tooth bud stage Snapintm1.1(KOMP)Vlcg HOM   E12.5 0.00
increased circulating alanine transaminase level Snapintm1.1(KOMP)Vlcg HET Early adult 1.23×10-06
preweaning lethality, complete penetrance Snapintm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased circulating sodium level Snapintm1.1(KOMP)Vlcg HET Early adult 7.16×10-07
increased circulating potassium level Snapintm1.1(KOMP)Vlcg HET Early adult 2.31×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (1 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Peyer's patch  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skeletal muscle  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 50% (1 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Not available
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

44 Images

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X-ray

XRay Images Forepaw

10 Images

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Embryo LacZ

LacZ images wholemount

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Sleep Wake

Wake state (bmp file)

11 Images

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Gross Morphology Embryo E9.5

Images

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

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Human diseases caused by Snapin 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 Snapin by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypoalbuminemia, Abnormal conju... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypoalbuminemia, Abnormal conju... ORPHA:529799
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche OMIM:145295
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia OMIM:304800
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Liddle Syndrome 3
Hypokalemia OMIM:618126
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... OMIM:262600
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... OMIM:609734
Pyruvate Carboxylase Deficiency
Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood, Hyperamm... ORPHA:3008
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Primary adrenal insufficiency, Hypogonadism, Type I diabetes mellitus, Abnorm... ORPHA:3143
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... OMIM:241150
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadism, Adrenal insufficiency, Delayed puberty, Central adrenal insufficiency OMIM:612079
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Cataract OMIM:608885
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia ORPHA:682
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:171876
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Adrenal Hypoplasia, Congenital
Decreased circulating aldosterone level, Adrenal insufficiency, Hypogonadotropic hypogonadism, Ab... OMIM:300200
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia OMIM:613845
Birk-Landau-Perez Syndrome
Hyperkalemia OMIM:617595
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... ORPHA:31824
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Increased erythrocyte protoporphyrin concentration, Abnormal circulating porphyrin ... ORPHA:100924
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Infant Botulism
Mydriasis, Hyponatremia, Keratoconjunctivitis sicca ORPHA:178478
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia ORPHA:99845
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Liddle Syndrome
Hypokalemia ORPHA:526
Hartsfield Syndrome
Hypernatremia OMIM:615465
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Pituitary hypothyroidism, Gonadotropin deficiency, Hyperinsulinemi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Pituitary hypothyroidism, Gonadotropin deficiency, Hyperinsulinemi... ORPHA:71526
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:613090
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Alg8-Cdg
Hyponatremia, Cataract ORPHA:79325
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Corneal crystals, Hypokalemia, Elevated circulat... ORPHA:411634
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Death in infancy, Pancreatitis OMIM:619386
Snakebite Envenomation
Hyponatremia ORPHA:449285
Familial Dysautonomia
Hyponatremia, Corneal erosion, Heterochromia iridis, Abnormal pupil morphology, Corneal opacity ORPHA:1764
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia ORPHA:681
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia OMIM:618314
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... OMIM:603553
Combined Oxidative Phosphorylation Deficiency 34
Hypogonadism, Primary adrenal insufficiency OMIM:617872
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Wolcott-Rallison Syndrome
Hyponatremia, Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia ORPHA:1667
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia OMIM:602522
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia ORPHA:90791
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the pituitary gland, Ad... ORPHA:91349
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:95409
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Glycerol Kinase Deficiency
Adrenal insufficiency, Adrenocortical hypoplasia OMIM:307030
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Legionnaires Disease
Hyponatremia ORPHA:549
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Shigellosis
Conjunctivitis, Hyponatremia, Corneal ulceration, Abnormal blood ion concentration ORPHA:810
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Cataract, Hypokalemia, Hypocalcemia OMIM:175500
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Primary adren... OMIM:240300
Whipple Disease
Hyponatremia ORPHA:3452
Pituitary Apoplexy
Mydriasis, Hyponatremia ORPHA:95613
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Triple A Syndrome
Adrenal insufficiency, Anterior hypopituitarism ORPHA:869
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyp... ORPHA:90038
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Decreased circulating aldosterone level, Precocious puberty i... ORPHA:90793
Addison Disease
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level ORPHA:85138
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia, Abnormal circulating cholesterol c... ORPHA:168558
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:609981
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Increased circulating renin level, Hyponatremia, Abnormal circulating cholesterol c... ORPHA:289548
Cystinosis
Corneal opacity, Hypophosphatemia, Hypokalemia ORPHA:213
Adenohypophysitis
Hyponatremia ORPHA:95512
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia ORPHA:293978
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology ORPHA:43
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Chédiak-Higashi Syndrome
Hypoproteinemia, Hyponatremia, Increased circulating ferritin concentration, Iris hypopigmentatio... ORPHA:167
Alg12-Cdg
Hypocholesterolemia, Hyponatremia, Hypoalbuminemia ORPHA:79324
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level ORPHA:89938
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Panhypophysitis
Hyponatremia ORPHA:95513
Wolman Disease
Adrenal insufficiency, Adrenal calcification ORPHA:75233
East Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia ORPHA:199343
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia OMIM:611590
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Holoprosencephaly
Hyponatremia, Cyclopia, Chorioretinal coloboma, Iris coloboma ORPHA:2162
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Buphthalmos, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Abnormal pupil mo... ORPHA:534
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:275761
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Cystinosis, Nephropathic
Hyponatremia, Corneal crystals, Decreased plasma carnitine, Recurrent corneal erosions, Hypophosp... OMIM:219800
Nephrotic Syndrome, Type 14
Hypogonadism, Adrenal insufficiency, Hypothyroidism OMIM:617575
Japanese Encephalitis
Hyponatremia ORPHA:79139
Sheehan Syndrome
Hyponatremia ORPHA:91355
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Flynn-Aird Syndrome
Type II diabetes mellitus, Primary adrenal insufficiency, Abnormality of the thyroid gland ORPHA:2047
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:157954
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Hypocalcemia ORPHA:544482
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Infantile Nephropathic Cystinosis
Hypokalemia, Hypophosphatemia, Corneal crystals, Abnormal cornea morphology, Abnormal blood ion c... ORPHA:411629
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia ORPHA:466650
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism ORPHA:300298
Prolactinoma
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hypogonadotropic hypogonad... ORPHA:2965
Bartter Syndrome, Type 3
Hyperchloriduria, Increased circulating renin level, Hypokalemia OMIM:607364
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:612780
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Primary adrenal insufficiency, Hyperthyroidism, Thymoma, Hypothyroidis... OMIM:269200
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency ORPHA:44
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:91350
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Death in infancy, Adrenal calcification OMIM:278000
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Decreased response to ... OMIM:615577
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Distal Monosomy 13Q
Primary adrenal insufficiency ORPHA:1590
Xp21 Deletion Syndrome
Hypogonadotropic hypogonadism, Adrenal insufficiency, Primary adrenal insufficiency ORPHA:261476
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... ORPHA:91347
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Beta-Thalassemia Intermedia
Adrenal insufficiency, Hypoparathyroidism, Hypogonadism, Diabetes mellitus, Hypothyroidism ORPHA:231222
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Mercury Poisoning
Hypokalemia ORPHA:330021
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency OMIM:530000
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypoparathyroidism, Diabetes mellitus, Hypothyroidism, Hypopituitarism, De... ORPHA:231226
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
Myasthenia Gravis
Abnormality of the thymus, Hashimoto thyroiditis, Hyperthyroidism, Primary adrenal insufficiency ORPHA:589
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... ORPHA:98754
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... ORPHA:177901
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Hypogonadotro... ORPHA:54595
Adrenomyeloneuropathy
Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotropic hormone excess, Primary ad... ORPHA:139399
Beta-Thalassemia Major
Adrenal insufficiency, Hypoparathyroidism, Diabetes mellitus, Hypothyroidism, Hypopituitarism, De... ORPHA:231214
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Premature adrenarche, Hypogonadotropic hyp... ORPHA:398073
Gitelman Syndrome
Hypomagnesemia, Increased circulating renin level, Hypokalemia OMIM:263800
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Adrenocorticotropin receptor defect, Decreased circulati... OMIM:231550
Carney Triad
Adrenal overactivity, Pheochromocytoma, Adrenocortical adenoma, Paraganglioma ORPHA:139411
Proximal Renal Tubular Acidosis
Hypokalemia, Hyperuricosuria, Cataract, Coloboma, Band keratopathy, Bicarbonaturia ORPHA:47159
Prader-Willi Syndrome
Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Hyperinsulinemia... OMIM:176270
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo... ORPHA:3337
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia OMIM:170390
Zellweger Syndrome
Death in infancy, Primary adrenal insufficiency ORPHA:912
Poems Syndrome
Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadism, Diabetes mellit... ORPHA:2905
Osteootohepatoenteric Syndrome
Increased serum bile acid concentration, Hypokalemia OMIM:619377
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... OMIM:601678
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Xerostomia, Premature adrenarche, Decrease... ORPHA:739
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia OMIM:219090
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Adrenocortical Carcinoma
Hypokalemia ORPHA:1501
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, I... ORPHA:786
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Decreased response to growth hormone stimulation test OMIM:616007
46,Xy Partial Gonadal Dysgenesis
Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Streak ovary, Abs... ORPHA:251510
Pearson Syndrome
Hypokalemia, Corneal stromal edema, Hypophosphatemia, Hyperalaninemia, Hypomagnesemia, Cataract, ... ORPHA:699
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Primary adrenal insufficiency, Decreased circulating cortisol level ORPHA:139396
Rabson-Mendenhall Syndrome
Increased C-peptide level, Hypokalemia ORPHA:769
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hyperchloriduria, I... OMIM:241200
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Hyperthyroidism, Hypothyroidism, Central a... ORPHA:488632
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Scorpion Envenomation
Mydriasis, Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating crea... ORPHA:466677
Marburg Hemorrhagic Fever
Conjunctival hyperemia, Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concen... ORPHA:99826
Vipoma
Hypercalcemia, Hypokalemia ORPHA:97282
Nelson Syndrome
Hypokalemia ORPHA:199244
Gitelman Syndrome
Hypermagnesemia, Hypocalcemia, Hypokalemia, Hypomagnesemia ORPHA:358
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypertriglyceridemia, Hypokalemia OMIM:619573
Distal Renal Tubular Acidosis
Hypokalemia ORPHA:18
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency OMIM:261515
Crimean-Congo Hemorrhagic Fever
Adrenal insufficiency, Inappropriate antidiuretic hormone secretion, Parotitis, Acute pancreatiti... ORPHA:99827
Leprechaunism
Increased circulating renin level, Hypokalemia ORPHA:508
Koolen-De Vries Syndrome Due To A Point Mutation
Pineal cyst, Primary adrenal insufficiency, Hypothyroidism, Decreased response to growth hormone ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pineal cyst, Primary adrenal insufficiency, Hypothyroidism, Decreased response to growth hormone ... ORPHA:363958
Microphthalmia, Syndromic 2
Adrenal insufficiency, Hypothyroidism OMIM:300166
Pallister-Hall Syndrome
Abnormal prolactin level, Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, ... ORPHA:672
Acute Liver Failure
Adrenal insufficiency ORPHA:90062
Orofaciodigital Syndrome Type 4
Primary adrenal insufficiency ORPHA:2753
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Keratoconus, Hypokalemia ORPHA:286

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 Snapin

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 Snapin.

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

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MGI Allele Allele Type Produced
Snapintm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Snapintm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Snapintm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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