Gene Summary

Name:
focadhesin
Synonyms:
BC057079

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 exploration in new environment Focadem1(IMPC)Bay HET Late adult 5.59×10-10
abnormal placenta size Focadem1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, incomplete penetrance Focadem1(IMPC)Bay HOM   Early adult 0.00
anophthalmia Focadem1(IMPC)Bay HOM E18.5 0.00
abnormal facial morphology Focadem1(IMPC)Bay HOM E18.5 0.00
cleft palate Focadem1(IMPC)Bay HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 Whole Body Dorso Ventral

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

X-ray

XRay Images Forepaw

19 Images

X-ray

XRay Images Skull Lateral Orientation

19 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

X-ray

XRay Images Skull Lateral Orientation

6 Images

X-ray

XRay Images Forepaw

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

19 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

MicroCT E18.5

Embryo reconstruction

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Liver Disease, Severe Congenital
Irritability, Short attention span OMIM:619991

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Anencephaly 2
Anencephaly, Anophthalmia, Median cleft palate, Cleft maxillary alveolar ridge, Median cleft uppe... OMIM:619452
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Fryns Microphthalmia Syndrome
Tessier cleft, Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft palate, Bilatera... OMIM:600776
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Orofacial cleft, Microphthalmia, Anophthalmia OMIM:611638
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Microphthalmia, Syndromic 12
Intestinal malrotation, Microphthalmia, Cleft palate, Anophthalmia OMIM:615524
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bi... ORPHA:1104
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Microphthalmia OMIM:600251
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft palate, Orbital encephalocele, Anophthalmia OMIM:164180
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Cleft upper lip, Cleft palate OMIM:613885
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Cerebrooculonasal Syndrome
Tessier cleft, Widely spaced teeth, Solitary median maxillary central incisor, Anophthalmia, High... ORPHA:66625
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Hydrolethalus
Gingival cleft, Microphthalmia, Anencephaly, Anophthalmia, Cleft palate, Bifid uvula, Unilateral ... ORPHA:2189
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Anophthalmia, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermil... ORPHA:411986
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Microphthalmia, Cleft palate OMIM:120433
Solitary Median Maxillary Central Incisor
Microphthalmia, Solitary median maxillary central incisor, Anophthalmia, Prominent median palatal... OMIM:147250
Trisomy 13
High, narrow palate, Microphthalmia, Anophthalmia, Abnormality of the dentition, Cleft palate, Lo... ORPHA:3378
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Cleft palate, Anophthalmia OMIM:610125
Microphthalmia, Syndromic 11
Cleft upper lip, Microphthalmia, Cleft palate OMIM:614402
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Microphthalmia, Syndromic 8
Orofacial cleft, Microphthalmia, Cleft upper lip, Cleft palate, Widely-spaced maxillary central i... OMIM:601349
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, High palate, Cleft upper lip, Cleft palate, Deep philtrum OMIM:206920
Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Anteriorly placed anus, Anophthalmia ORPHA:2717
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, High palate, Anophthalmia ORPHA:139471
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Cleft palate, High palate, Tooth agenesis ORPHA:1135
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Tooth malposition, Anophthalmia, Failure of eruption of permanent teeth, Bifid uv... ORPHA:2250
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Anophthalmia, Enamel hypoplasia, Anodontia, Delayed eruption of ... ORPHA:90322
Cerebrooculonasal Syndrome
Narrow palate, Solitary median maxillary central incisor, Encephalocele, Anophthalmia, Optic nerv... OMIM:605627
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:899
Trisomy 1Q
Cleft palate, Narrow mouth, Anal atresia, Anophthalmia ORPHA:261344
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Esophageal atresia, Tracheoesophageal fistula, Anophthalmia ORPHA:77298
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Anteriorly placed anus, Anophthalmia OMIM:248450
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Cleft upper lip, Cleft palate OMIM:611561
Matthew-Wood Syndrome
Microphthalmia, Duodenal stenosis, Anophthalmia ORPHA:2470
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate ORPHA:2476
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Aniridia, Anophthalmia, Umbilical hernia, Long philtrum ORPHA:1101
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate, Lip pit ORPHA:1072
Holoprosencephaly 9
Agenesis of incisor, Microphthalmia, Thick lower lip vermilion, Solitary median maxillary central... OMIM:610829
Cockayne Syndrome Type 1
Hypoplasia of the primary teeth, Anophthalmia, Abnormality of the dentition, Enamel hypoplasia, A... ORPHA:90321
Holoprosencephaly
Microphthalmia, Solitary median maxillary central incisor, Intestinal atresia, Encephalocele, Ano... ORPHA:2162
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long philtrum, Microphthalmia, Anophthalmia OMIM:615877
Vacterl With Hydrocephalus
Microphthalmia, Esophageal atresia, Anophthalmia, Anal atresia, Tracheoesophageal fistula, Spina ... ORPHA:3412
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Esophageal atresia, Rectovaginal fistula, Anophthalmia, Microgastria, Perineal fi... ORPHA:2538
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Furrowe... ORPHA:564
Oculopalatocerebral Syndrome
Microphthalmia, Cleft palate OMIM:257910
Microphthalmia, Syndromic 2
Supernumerary tooth, Microphthalmia, Radiculomegaly, Dental malocclusion, Delayed eruption of tee... OMIM:300166
Microphthalmia, Syndromic 3
Microphthalmia, Esophageal atresia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia OMIM:206900
Fraser Syndrome 1
Tessier cleft, Bilateral microphthalmos, Encephalocele, Anophthalmia, Dental crowding, Myelomenin... OMIM:219000
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate ORPHA:2736
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia OMIM:601186
Fibular Hemimelia
Anophthalmia, Spina bifida ORPHA:93323
Microphthalmia With Limb Anomalies
Thin vermilion border, Microphthalmia, True anophthalmia, High palate, Cleft upper lip, Cleft pal... ORPHA:1106
Fraser Syndrome
Orofacial cleft, Microphthalmia, Anal stenosis, Encephalocele, Anophthalmia, Dental crowding, Ect... ORPHA:2052
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Spina bifida occulta, Delayed eruption of teeth, Anophthalmia, Oligodon... OMIM:305600
Proboscis Lateralis
Orofacial cleft, Microphthalmia, Agenesis of canine, Anophthalmia, Optic nerve hypoplasia, High p... ORPHA:141099
14Q22Q23 Microdeletion Syndrome
Downturned corners of mouth, Optic nerve aplasia, Anophthalmia ORPHA:264200
Charge Syndrome
Microphthalmia, Abnormal soft palate morphology, Delayed eruption of teeth, Anophthalmia, Narrow ... ORPHA:138
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Long philtrum, Microphthalmia, Thick vermilion border, Anophthalmia ORPHA:2526
Joubert Syndrome 21
Occipital encephalocele, Encephalocele, Anophthalmia OMIM:615636
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia, Abnormal dental enamel morphology, Abnormal rectum morphology, Abno... ORPHA:2556
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia, High palate, Bifid uvula, Cleft palate, Microglossia OMIM:607932
Charge Syndrome
Microphthalmia, Anal stenosis, Esophageal atresia, Anophthalmia, Unilateral microphthalmos, Trach... OMIM:214800
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia, Branchial anomaly, Abnormality of the dentition, Pyloric stenosis, ... OMIM:113620
Microphthalmia, Syndromic 1
Orofacial cleft, Rectal prolapse, Aganglionic megacolon, High, narrow palate, Microphthalmia, Too... OMIM:309800
Craniofacial Microsomia 1
Occipital encephalocele, Microphthalmia, Transverse facial cleft, Anophthalmia, Branchial anomaly... OMIM:164210
Liver Disease, Severe Congenital
Irritability, Short attention span OMIM:619991

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 Focad

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 Focad.

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

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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
Focadem1(IMPC)Bay Exon Deletion Mice
Focadtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Focadtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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