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Gene: Focad MGI:2676921

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Gene Summary

Name:
focadhesin
Synonyms:
BC057079

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

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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 Forepaw

19 Images

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X-ray

XRay Images Whole Body Dorso Ventral

6 Images

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X-ray

XRay Images Forepaw

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

19 Images

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X-ray

XRay Images Whole Body Dorso Ventral

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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X-ray

XRay Images Skull Lateral Orientation

6 Images

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X-ray

XRay Images Skull Lateral Orientation

19 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

3 Images

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