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Gene: Sash1 MGI:1917347

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Gene Summary

Name:
SAM and SH3 domain containing 1
Synonyms:
1100001C18Rik,  A330076K04Rik,  2500002E12Rik

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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
increased bone mineral content Sash1em1(IMPC)Bay HET Early adult 2.84×10-05
increased cornea thickness Sash1em1(IMPC)Bay HET   Early adult 5.67×10-05
embryonic growth retardation Sash1em1(IMPC)Bay HOM E18.5 0.00
abnormal embryo size Sash1em1(IMPC)Bay HET E18.5 0.00
abnormal embryo size Sash1em1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Sash1em1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

VIP of left eye

23 Images

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Eye Morphology

VIP of right fundus

23 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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Eye Morphology

VIP of right eye

23 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

20 Images

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X-ray

XRay Images Forepaw

20 Images

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Eye Morphology

VIP of left fundus

23 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

20 Images

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X-ray

XRay Images Skull Lateral Orientation

20 Images

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Human diseases caused by Sash1 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 Sash1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia OMIM:618373
Dyschromatosis Universalis Hereditaria 1
OMIM:127500

The table below shows human diseases predicted to be associated to Sash1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Osteoporosis, Corneal scarring, Keratoglobus, Decreased corne... ORPHA:90354
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Astigmatism OMIM:108145
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Warburg-Cinotti Syndrome
Symblepharon, Osteolytic defects of the phalanges of the hand, Limbal stem cell deficiency, Decre... OMIM:618175
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Gapo Syndrome
Keratoconus, Decreased skull ossification ORPHA:2067
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... ORPHA:2363
Costello Syndrome
Keratoconus ORPHA:3071
Angelman Syndrome
Keratoconus, Astigmatism, Iris hypopigmentation ORPHA:72
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus, Craniosynostosis ORPHA:3342
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Microcornea, Keratoconus, Osteoporosis OMIM:225400
Arterial Tortuosity Syndrome
Keratoconus, Astigmatism OMIM:208050
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea OMIM:230740
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca, Osteolysis ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis OMIM:130050
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology, Osteolysis ORPHA:286
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia OMIM:618373
Dyschromatosis Universalis Hereditaria 1
OMIM:127500

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 Sash1

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 Sash1.

No publications found that use IMPC mice or data for Sash1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Sash1em1(IMPC)Bay Exon Deletion Mice
Sash1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sash1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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