Gene Summary

shroom family member 3
Shrm,  Shrm3,  D5Ertd287e

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
preweaning lethality, complete penetrance Shroom3em1(IMPC)Bay HOM   Early adult 0.00

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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.

Phenotype associated images not available

Human diseases caused by Shroom3 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 Shroom3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Fryns Microphthalmia Syndrome
Neural tube defect, Bilateral cleft lip and palate, Facial cleft OMIM:600776
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Holoprosencephaly, Omphalocele, Facial cleft OMIM:601357
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Facial Clefting, Oblique, 1
Facial cleft OMIM:600251
Midline facial cleft, Cleft palate, Encephalocele ORPHA:3374
Supernumerary Nostril
Facial cleft ORPHA:141096
Anophthalmia Plus Syndrome
Spina bifida, Bilateral cleft lip and palate, Cleft palate, Facial cleft ORPHA:1104
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Cleft palate, High, narrow palate, Facial cleft OMIM:607597
Frontonasal Dysplasia 3
Facial cleft OMIM:613456
Constricting Bands, Congenital
Gastroschisis, Bladder exstrophy, Omphalocele, Encephalocele, Facial cleft OMIM:217100
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Anencephaly, Spina bifida, Cleft palate ORPHA:2476
Frontofacionasal Dysplasia
Cleft palate, Encephalocele, Facial cleft ORPHA:1791
Acrofacial Dysostosis, Weyers Type
Facial cleft ORPHA:952
Hypertelorism, Microtia, Facial Clefting Syndrome
Facial cleft OMIM:239800
Oculomaxillofacial Dysostosis
Facial cleft ORPHA:1794
Holoprosencephaly, Spina bifida, Cleft palate, Hydrocephalus ORPHA:945
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Inguinal hernia, Facial cleft ORPHA:1786
Frontal Encephalocele
Spina bifida, Encephalocele, Hydrocephalus ORPHA:1931
Cerebrooculonasal Syndrome
Facial cleft ORPHA:66625
Schisis Association
Anencephaly, Tracheoesophageal fistula, Anal atresia, Spina bifida, Cleft palate, Encephalocele ORPHA:63862
Oculocerebrocutaneous Syndrome
Hydrocephalus, Facial cleft ORPHA:1647
Mosaic Trisomy 9
High palate, Intestinal malrotation, Abnormal liver lobulation, Spina bifida, Asplenia, Cleft pal... ORPHA:99776
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Myelomeningocele, Cervical spina bifida, Anencephaly, Anal atresia, Sirenomelia, Spinal dysraphism ORPHA:63260
Caudal Duplication
Intestinal duplication, Spina bifida, Myelomeningocele ORPHA:1756
Short Rib-Polydactyly Syndrome
Abnormality of the liver, Intestinal malrotation, Gastrointestinal atresia, Cleft palate, Hepatic... ORPHA:1505
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the frontal bone, Facial cleft, Cleft palate, Cranium bifidum occultum ORPHA:306542
Mycophenolate Mofetil Embryopathy
Tracheoesophageal fistula, Facial cleft, Hydrocephalus ORPHA:268249
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy, Spina bifida, Hepatomegaly ORPHA:99742
Treacher-Collins Syndrome
High palate, Rectovaginal fistula, Tracheoesophageal fistula, Branchial fistula, Glossoptosis, Cl... ORPHA:861
Spina bifida, Tracheoesophageal fistula, Anal atresia, Sirenomelia ORPHA:3169
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Acropectorovertebral Dysplasia
Spina bifida, Cleft palate, High, narrow palate ORPHA:957
Isolated Klippel-Feil Syndrome
Ectopic anus, Spina bifida, Cleft palate, Anal atresia ORPHA:2345
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Dysphagia, Hydrocephalus, Cervical myelopathy OMIM:207950
3Mc Syndrome 3
Facial cleft OMIM:248340
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Isolated Arrhinia
Facial cleft ORPHA:1134
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Facial cleft ORPHA:1236
Blepharocheilodontic Syndrome 1
Neural tube defect, Anal atresia OMIM:119580
Fraser Syndrome 1
Myelomeningocele, Abnormality of the small intestine, Abnormality of the anus, Hydrocephalus, Cle... OMIM:219000
Bartsocas-Papas Syndrome 1
Inguinal hernia, Omphalocele, Facial cleft OMIM:263650
High palate, Abnormality of the gastrointestinal tract, Decreased liver function, Macroglossia, N... ORPHA:79321
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Tracheoesophageal fistula, Spina bifida, Hydrocephalus, Spina bifi... ORPHA:2437
Myelomeningocele, Anencephaly, Anal atresia, Spinal dysraphism, Spina bifida, Hydrocephalus, Holo... ORPHA:63259
Cerebrocostomandibular Syndrome
Myelomeningocele, Hydranencephaly, Spina bifida, Short hard palate, Glossoptosis, Death in infanc... ORPHA:1393
Holoprosencephaly 1
Ethmocephaly, Alobar holoprosencephaly, Facial cleft OMIM:236100
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Spina bifida ORPHA:1327
Waardenburg Syndrome Type 1
Spina bifida, Meningocele, Cleft palate, Aganglionic megacolon ORPHA:894
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Exencephaly, Encephalocele ORPHA:2211
Lumbar Syndrome
Ectopic anus, Spina bifida, Myelomeningocele, Anal atresia ORPHA:83628
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Spina bifida ORPHA:1120
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida OMIM:600122
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Ectopic anus, Facial cleft, Esophageal atresia, Anal atresia, Congenital hepatic fibrosis, Bifid ... ORPHA:93271
Vacterl With Hydrocephalus
Tracheoesophageal fistula, Anal atresia, Esophageal atresia, Spina bifida, Hydrocephalus, Aqueduc... ORPHA:3412
Cloacal Exstrophy
Myelomeningocele, Intestinal malrotation, Intestinal duplication, Anal atresia, Spina bifida ORPHA:93929
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Pelvis-Shoulder Dysplasia
Hydranencephaly, Microglossia, Spina bifida, Hydrocephalus, Cleft palate ORPHA:2839
Limb Body Wall Complex
Short umbilical cord, Myelomeningocele, Abnormality of the liver, Anencephaly, Spina bifida, Abno... ORPHA:2369
Trisomy 18
Anencephaly, Anal atresia, Esophageal atresia, Spina bifida, Holoprosencephaly, Narrow palate, Cl... ORPHA:3380
Pagod Syndrome
Spina bifida, Abnormality of the spleen, Death in infancy, Meningocele, Encephalocele ORPHA:991
Trisomy 20P
Umbilical hernia, Ectopic anus, Spina bifida ORPHA:261318
Posterior Meningocele
Occipital meningocele, Lipomyelomeningocele, Neural tube defect, Hydrocephalus, Meningocele ORPHA:268810
Jacobsen Syndrome
Ectopic anus, Intestinal malrotation, Spina bifida, Abnormality of the anus, Pyloric stenosis, An... ORPHA:2308
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Pancreatic cysts, Meckel diverticulum, Spina bifida, Death in infancy OMIM:274000
Focal Dermal Hypoplasia
Gastroesophageal reflux, Acute hepatic failure, Spina bifida, Umbilical hernia, Duodenal atresia ORPHA:2092
Fanconi Anemia
High palate, Abnormality of the liver, Tracheoesophageal fistula, Aganglionic megacolon, Aplasia/... ORPHA:84
22Q11.2 Deletion Syndrome
Cholelithiasis, Occipital myelomeningocele, Gastrointestinal hemorrhage, Intestinal malrotation, ... ORPHA:567
Basal Cell Nevus Syndrome
Hamartomatous stomach polyps, Spina bifida, Cleft palate, Hydrocephalus OMIM:109400
Neu-Laxova Syndrome
Submucous cleft hard palate, Spina bifida, Bifid uvula, Cleft palate ORPHA:2671
Nail-Patella Syndrome
Spina bifida, Cleft palate OMIM:161200
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
Hallermann-Streiff Syndrome
High palate, Spina bifida, Narrow palate, High, narrow palate OMIM:234100
Aicardi Syndrome
Hiatus hernia, Spina bifida, Cleft palate, Hepatoblastoma OMIM:304050
Fibular Hemimelia
Spina bifida ORPHA:93323
Campomelic Dysplasia
High palate, Spinal dysraphism, Submucous cleft hard palate, Spina bifida, Hydrocephalus, Wide an... OMIM:114290
Neu-Laxova Syndrome 1
Short umbilical cord, Hydranencephaly, Spina bifida, Small placenta, Cleft palate, Stillbirth OMIM:256520
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Spina bifida, Bifid uvula, Gastroesophageal reflux OMIM:619480
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Spina bifida ORPHA:508498
Vater/Vacterl Association
Occipital encephalocele, Tracheoesophageal fistula, Anal atresia, Patent urachus, Esophageal atre... OMIM:192350
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus OMIM:162200
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Anal stenosis, Anal atresia, Spina bifida, Hydrocephalus ORPHA:322
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Hydrocephalus ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Hydrocephalus ORPHA:363958
Craniofacial Microsomia
Occipital encephalocele, Transverse facial cleft, Hydrocephalus, Branchial anomaly, Cleft palate OMIM:164210
Split Cord Malformation
Myelomeningocele, Cervical spina bifida, Lipomyelomeningocele, Hydrocephalus, Meningocele ORPHA:573278


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 Shroom3

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 Shroom3.

No publications found that use IMPC mice or data for Shroom3.

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MGI Allele Allele Type Produced
Shroom3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Shroom3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Shroom3em1(IMPC)Bay Exon Deletion Mice

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