Gene Summary

Name:
SAS-6 centriolar assembly protein
Synonyms:
2810453L12Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal forebrain development Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal heart morphology Sass6em1(IMPC)Bay HOM E9.5 0.00
edema Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal optic vesicle formation Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal midbrain development Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal hindbrain development Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal neural tube closure Sass6em1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Sass6em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo size Sass6em1(IMPC)Bay HOM E9.5 0.00
embryonic growth retardation Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal pharyngeal arch morphology Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal tail bud morphology Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal neural tube morphology Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal somite shape Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal pericardium morphology Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal heart looping Sass6em1(IMPC)Bay HOM E9.5 0.00
pale yolk sac Sass6em1(IMPC)Bay HOM E9.5 0.00
abnormal vitelline vasculature morphology Sass6em1(IMPC)Bay HOM E9.5 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.

Phenotype associated images not available

Human diseases caused by Sass6 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 Sass6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Primary Microcephaly
Growth delay, Short stature ORPHA:2512
Microcephaly 14, Primary, Autosomal Recessive
OMIM:616402

The table below shows human diseases predicted to be associated to Sass6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Verheij Syndrome
Coloboma, Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Short... OMIM:615583
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Short stature, Abnormal mitral valve morphology, Pulmonic stenosis ORPHA:1131
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Branchial anomaly, Coloboma, Pleural effusi... ORPHA:453499
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Craniofacial Microsomia 2
Dermal sinus tract OMIM:620444
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Anencephaly, Spina bifida ORPHA:2476
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Ho... ORPHA:1908
Holoprosencephaly
Cyclopia, Encephalocele, Hydrocephalus, Branchial anomaly, Holoprosencephaly, Chorioretinal colob... ORPHA:2162
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Coloboma, Ventricular septal defect, Holoprosencephaly OMIM:601357
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Oligomeganephronia
Secundum atrial septal defect, Dehydration, Branchial cyst, Optic disc coloboma ORPHA:2260
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Palpebral edema, Webbed neck, Hydrocephalus, Low posterior hairline, Op... ORPHA:261337
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Branchial anomaly, Coloboma, Increased nuchal translucency, Growth delay, Abnormal heart morpholo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Coloboma, Increased nuchal translucency, Growth delay, Abnormal heart morpholo... ORPHA:352665
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meni... ORPHA:268810
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Atrial septal d... ORPHA:261330
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Bor Syndrome
Branchial cyst ORPHA:107
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Aortic valve stenosis, Mitral stenosis, Spinal dysraphism, Atrial septal defect, H... OMIM:617660
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Spina bifida occulta, Truncus arteriosus, Dysplastic aortic valve,... ORPHA:508488
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Polyhydramnios, Patent foramen ovale, Short stature, Natal tooth, Optic disc coloboma, Right vent... OMIM:620186
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus, Encephalocele, Iris coloboma ORPHA:861
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Iniencephaly
Polyhydramnios, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeningocele, Spina bi... ORPHA:63259
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele OMIM:600145
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Patent ductus art... OMIM:164210
Branchiooculofacial Syndrome
Postnatal growth retardation, Branchial anomaly, Low posterior hairline, Retinal coloboma, Intrau... OMIM:113620
Alobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93924
Semilobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:220386
Witteveen-Kolk Syndrome
Polyhydramnios, Growth delay, Short stature, Intrauterine growth retardation, Branchial fistula, ... OMIM:613406
Schinzel-Giedion Syndrome
Neural tube defect, Delayed eruption of teeth, Abnormal heart morphology, Umbilical hernia, Short... ORPHA:798
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Autosomal Recessive Primary Microcephaly
Growth delay, Short stature ORPHA:2512
Microcephaly 14, Primary, Autosomal Recessive
OMIM:616402

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 Sass6

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 Sass6.

No publications found that use IMPC mice or data for Sass6.

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
Sass6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sass6em1(IMPC)Bay Exon Deletion Mice
Sass6tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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