Gene: Sla2 MGI:1925049

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Gene Summary

Name:
Src-like-adaptor 2
Synonyms:
SLAP-2,  SLAP2,  A930009E21Rik

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
increased circulating total protein level Sla2em1(IMPC)Ccpcz HOM Early adult 2.02×10-06
decreased body weight Sla2em1(IMPC)Ccpcz HOM Early adult 7.51×10-09
enhanced cued conditioning behavior Sla2em1(IMPC)Ccpcz HOM   Early adult 4.20×10-06
abnormal cranium morphology Sla2em1(IMPC)Ccpcz HOM Early adult 1.87×10-07
abnormal digit morphology Sla2em1(IMPC)Ccpcz HOM Early adult 4.54×10-05
increased freezing behavior Sla2em1(IMPC)Ccpcz HOM Early adult 3.75×10-05
increased circulating HDL cholesterol level Sla2em1(IMPC)Ccpcz HOM Early adult 4.63×10-05
increased circulating cholesterol level Sla2em1(IMPC)Ccpcz HOM   Early adult 2.45×10-06
abnormal skin morphology Sla2em1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

Human diseases caused by Sla2 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 Sla2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy OMIM:232700
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Trypsinogen Deficiency
Hypoproteinemia, Failure to thrive OMIM:614044
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LD... OMIM:615703
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Temple Syndrome
Hypercholesterolemia, Overweight, Hypertriglyceridemia, Truncal obesity, Clinodactyly, Small for ... OMIM:616222
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia, Weakness of the intrins... ORPHA:488650
Immunodeficiency 43
Radial bowing, Hypoproteinemia, Hypoalbuminemia, Hypoplasia of the ulna OMIM:241600
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Aggressive behavior, Acute hype... ORPHA:247585
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Small hand, Clinodactyly, Short foot, Obesity ORPHA:254531
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Increased alph... ORPHA:86816
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Truncal obesity, Failure to thrive ORPHA:181393
Multiple Myeloma
Elevated circulating creatinine concentration, Weight loss, Hypercalcemia, Hyperproteinemia ORPHA:29073
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases ORPHA:1116
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Laron Syndrome
Hypercholesterolemia, Abnormality of the elbow, Truncal obesity, Short toe, Brachydactyly ORPHA:633
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Abnormality of the forearm, Broad palm, Head-banging, Hype... OMIM:182290
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Psychomotor deterioration, Hyperga... ORPHA:79237
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dementia, Hypoalbuminemia, Cognitive impairment, Mental deterioration OMIM:208920
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Clinodactyly, Truncal obesity, Small for gestational age, Small hand, Short... ORPHA:96184
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Clinodactyly of the 5th finger, Single transverse palmar crease, Aggressive beha... OMIM:608093
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Partial duplication of thumb phalanx, Clinodactyly, Hypoalbuminemia, Arachn... OMIM:616730
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight, Small hand, Short clavicles, Tapered finger ORPHA:401923
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Cubitus valgus, Partial duplication of thumb phalanx, Clinodactyly, Arachno... OMIM:618348
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Cog4-Cdg
Hypercholesterolemia, Irritability, Failure to thrive in infancy ORPHA:263501
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Smith-Magenis Syndrome
Hypercholesterolemia, Hand polydactyly, Toe syndactyly, Self-injurious behavior, Failure to thriv... ORPHA:819
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing of fingers, Hypoproteinemia, Clubbing, Hypoalbuminemia OMIM:226300
Omenn Syndrome
Hypoproteinemia, Failure to thrive OMIM:603554
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Small for gestational age, Increased circulating free ... ORPHA:26793
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Truncal obesity, Abdominal obesity OMIM:615812
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Large hands, Hypertriglyceridemia, Increased C-peptide level, Failure to th... ORPHA:528
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Weight loss, Hypoalbuminemia, Failure to thrive ORPHA:90362
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Leptospirosis
Hyperproteinemia ORPHA:509
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Failure to thrive, Decreased HDL cholest... OMIM:278000
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Delayed proximal femoral epiphyseal ossification, Abnormality of epiphysis ... ORPHA:90674
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Obesity ORPHA:209902
Dengue Fever
Hypoproteinemia ORPHA:99828
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Hypercholesterolemia, Acroosteolysis of d... ORPHA:2457
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Hypercholesterolemia, Memory impairment, Progressive neurologic deterioration ORPHA:90065
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly OMIM:235255
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Tapered finger, Genu varum, Metatarsus valgus ORPHA:2479
Johanson-Blizzard Syndrome
Hypoproteinemia, Failure to thrive ORPHA:2315
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Genu valgum, Arachnodactyly OMIM:249310
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly ORPHA:1655
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration OMIM:210250
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight, Failure to thrive, Elevated ci... ORPHA:264580
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, F... ORPHA:370
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Dementia, Hyponatremia, Hypertrigl... ORPHA:167
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Palmoplantar hyperhidrosis, Hypertriglyceridemia, Palmoplantar keratoderma OMIM:610644
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Psychomotor deterioration, Hyponatremia, Steatorrhea, Weight l... ORPHA:275761
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia ORPHA:340
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Intraalveo... ORPHA:470
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Genu valgum, Camptodactyly of fi... OMIM:309000
Pierson Syndrome
Hypoproteinemia OMIM:609049
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Genu valgum, Abnormality of epiphysis morp... ORPHA:534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia, Failure to thrive, Cognit... ORPHA:79259
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Steinert Myotonic Dystrophy
Hypercholesterolemia, Aggressive behavior, Depression, Impairment in personality functioning, Emo... ORPHA:273
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Alagille Syndrome 1
Hypercholesterolemia, Hypoplasia of the ulna, Short distal phalanx of finger, Hypertriglyceridemi... OMIM:118450
Juvenile Polyposis Syndrome
Clubbing of fingers, Hypoproteinemia, Failure to thrive ORPHA:2929
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665

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 Sla2

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 Sla2.

No publications found that use IMPC mice or data for Sla2.

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MGI Allele Allele Type Produced
Sla2em1(IMPC)Ccpcz Exon Deletion Mice
Sla2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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