Gene Summary

sorting nexin 6
2810425K19Rik,  2610032J07Rik,  2010006G21Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
increased circulating calcium level Snx6em1(IMPC)J HOM   Early adult 6.46×10-05
increased circulating HDL cholesterol level Snx6em1(IMPC)J HOM   Early adult 2.73×10-06
decreased locomotor activity Snx6em1(IMPC)J HOM Early adult 8.11×10-05
decreased thigmotaxis Snx6em1(IMPC)J HOM   Early adult 8.35×10-05
increased circulating cholesterol level Snx6em1(IMPC)J HOM   Early adult 2.28×10-11

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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.

Electrocardiogram (ECG)

Waveform Image

16 Images

Electroretinography 3

Fundus file

6 Images


XRay Images Forepaw

11 Images


XRay Images Whole Body Lateral Orientation

11 Images


XRay Images Skull Lateral Orientation

11 Images


XRay Images Skull Dorso Ventral Orientation

11 Images


XRay Images Whole Body Dorso Ventral

11 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Snx6 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 Snx6 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Ataxia, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Ataxia With Vitamin E Deficiency
Hypercholesterolemia, Ataxia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concen... OMIM:277460
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Ataxia, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Irritability, Hypercalcemia ORPHA:436
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Rhabdoid Tumor
Irritability, Hypercalcemia ORPHA:69077
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Uremic Pruritus
Hypercalcemia, Increased blood urea nitrogen, Depression, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Lethargy OMIM:143880
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Ataxia, Gait ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia OMIM:208920
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Non-Functioning Paraganglioma
Panic attack, Hypercalcemia ORPHA:94080
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Anxiety, Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalcemic tetan... ORPHA:36913
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Depression, Hypercalcemia OMIM:600740
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Morgagni-Stewart-Morel Syndrome
Suicidal ideation, Depression, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Irritability, Hypercalcemia OMIM:241500
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Aggressive beh... ORPHA:247585
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Hypercholesterolemia, Ataxia, Elevated circulating creatine kinase co... ORPHA:64753
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Irritability, Ataxia, Hypercholesterolemia ORPHA:263501
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Anxiety, Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalcemic tetan... ORPHA:94089
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Sporadic Pheochromocytoma/Secreting Paraganglioma
Panic attack, Hypercalcemia, Episodic paroxysmal anxiety ORPHA:276621
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Self-mutilation, Hypercalcemia, Aggressive behavior ORPHA:476126
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Decreased circulating cortisol level, Lethargy, Hyperuricemia ORPHA:199299
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Laron Syndrome
Hypercholesterolemia ORPHA:633
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Hereditary Pheochromocytoma-Paraganglioma
Panic attack, Hypercalcemia, Episodic paroxysmal anxiety ORPHA:29072
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Smith-Magenis Syndrome
Hypercholesterolemia, Self-injurious behavior, Anxiety, Hypertriglyceridemia, Gait disturbance ORPHA:819
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Fibrous Dysplasia Of Bone
Antalgic gait, Hypercalcemia, Hypophosphatemia, Difficulty walking, Increased circulating cortiso... ORPHA:249
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decreased circulati... ORPHA:95409
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:210250
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Lethargy, Irritability ORPHA:173
Hypercalcemia ORPHA:98292
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Neonatal hyperbilirubinemia, Depression, Abnormal circulating thy... ORPHA:90674
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Hyperphosphatemia, Difficulty walking ORPHA:99845
Autosomal Dominant Hypocalcemia
Anxiety, Hypocalcemia, Emotional lability, Hyperphosphatemia, Depression, Hypomagnesemia ORPHA:428
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypochloremia, Increased circulating renin level, Hypercalcemia, Increased serum pro... OMIM:601678
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... OMIM:278000
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Emotional lability, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Hypercalcemia OMIM:171300
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Megalocornea-Mental Retardation Syndrome
Ataxia, Hypercholesterolemia OMIM:249310
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Timothy Syndrome
Hypocalcemia OMIM:601005
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Irritability, Hypophosphatemia, Difficulty walking ORPHA:289157
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ataxia OMIM:618476
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:93160
Megalocornea-Intellectual Disability Syndrome
Ataxia, Hypercholesterolemia ORPHA:2479
Hypercalcemia, Depression, Increased circulating cortisol level, Steatorrhea ORPHA:97280
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Addison Disease
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Decreased circulati... ORPHA:85138
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:2457
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Lethargy, Elevated circulating creatine kinase concentration, Incr... ORPHA:26793
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Hypokalemia, Hypercalcemia, Increased circulating cortisol level ORPHA:97282
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Hypercalcemia, Increased circulating cortisol level, Steatorrhea ORPHA:97283
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:352540
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Anxiety, Hypocalcemia, Irritability, Calcinosis, Hyperphosphatemia, Hypoca... ORPHA:79444
Celiac Disease, Susceptibility To, 1
Anxiety, Hypocalcemia, Ataxia, Depression, Steatorrhea OMIM:212750
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Multiple Endocrine Neoplasia Type 2
Anxiety, Hypercalcemia ORPHA:653
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Anxiety, Hyperuricemia, Hypertriglycerid... ORPHA:90041
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level ORPHA:913
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Lethargy, Tip-toe gait ORPHA:746
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Anxiety, Hyperuricemia, Elevated circulating creatine k... ORPHA:94093
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:79240
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:370
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Primary hypercortisolism, Lethargy, Depression, Increased circulating cortisol level ORPHA:652
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperprolinemia, Elevated pla... ORPHA:470
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:264580
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Anxiety, Hypocalcemia, Irritability, Calcinosis, Hyperphosphatemia, Hypoca... ORPHA:79443
Visceral Steatosis, Congenital
Hypocalcemia, Lethargy OMIM:228100
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Ataxia, Euphoria ORPHA:31826
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Irritability OMIM:259720
Williams Syndrome
Dysmetria, Hypercalcemia, Abnormal circulating lipid concentration, Anxiety, Ataxia, Elevated cir... ORPHA:904
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Hypertriglyceridemia, Steatorrhea ORPHA:275761
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Velocardiofacial Syndrome
Hypocalcemia, Aggressive behavior, Mood swings OMIM:192430
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Steinert Myotonic Dystrophy
Hypercholesterolemia, Anxiety, Inability to walk, Aggressive behavior, Impairment in personality ... ORPHA:273
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Self-injurious behavior, Anxiety,... ORPHA:534
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Bicarbonaturia, Aggressive behavior, Elevated amniotic fluid alpha-fetoprot... OMIM:309000
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Ataxia, Lethargy, Elevated circulating creatine kinase concentration,... ORPHA:466650
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Williams-Beuren Syndrome
Anxiety, Gait imbalance, Hypercalcemia OMIM:194050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypercholesterolemia, Hyperuricemia, Xanthelasma, Hypertriglyceridemia ORPHA:79259
Pearson Syndrome
Hypokalemia, Hypocalcemia, Ataxia, Hypophosphatemia, Hypomagnesemia, Hyperalaninemia, Steatorrhea ORPHA:699
Lipodystrophy, Familial Partial, Type 7
Dysmetria, Hypercholesterolemia, Gait ataxia, Hypertriglyceridemia, Dysdiadochokinesis OMIM:606721
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Sotos Syndrome
Anxiety, Hypercalcemia, Aggressive behavior ORPHA:821
Hypercalcemia ORPHA:797
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Hypermagnesemia, Hypomagnesemia, Primary hyperaldosteronism ORPHA:358
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia OMIM:118450
22Q11.2 Deletion Syndrome
Anxiety, Hypocalcemia, Depression, Bipolar affective disorder ORPHA:567
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low frustration tolerance, Hypocalcemia, Tip-toe gait, Impulsivity, Hypomagnesemia, Falls, Broad-... OMIM:619503
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Digeorge Syndrome
Hypocalcemia, Bipolar affective disorder OMIM:188400
Charge Syndrome
Hypocalcemia, Self-mutilation OMIM:214800
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800


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 Snx6

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 Snx6.

No publications found that use IMPC mice or data for Snx6.

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MGI Allele Allele Type Produced
Snx6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Snx6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Snx6em1(IMPC)J Exon Deletion Mice

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