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Gene: Slmap MGI:1933549

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Gene Summary

Name:
sarcolemma associated protein
Synonyms:
Miranda,  D330001L02Rik,  Slap

Order Alleles

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
cleft palate Slmapem1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Slmapem1(IMPC)J HOM   Early adult 0.00
abnormal head shape Slmapem1(IMPC)J HOM E18.5 0.00
abnormal limb morphology Slmapem1(IMPC)J HOM E18.5 0.00
abnormal head size Slmapem1(IMPC)J HOM E18.5 0.00
abnormal embryo size Slmapem1(IMPC)J HOM E18.5 0.00
abnormal tail morphology Slmapem1(IMPC)J HOM E18.5 0.00

Download data as:  TSV  XLS

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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.

Gross Morphology Embryo E18.5

Images

6 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

1 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Brugada Syndrome
ORPHA:130

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily sublux... OMIM:311895
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Uvula, Bifid
Bifid uvula OMIM:192100
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Cleft Soft Palate
Cleft soft palate OMIM:119570
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Isolated Dandy-Walker Malformation
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia ORPHA:217
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Parc Syndrome
Cleft palate OMIM:600331
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Small hand, Cleft palate, Short foot, Midface retrusion OMIM:300261
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Flat occiput, Microcephaly, Brachycephaly, Long philtrum, Smooth philtrum ORPHA:46
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Microcephaly, Cleft palate, Intrauterine growth reta... OMIM:600252
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Adducted Thumbs Syndrome
Craniosynostosis, Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, ... OMIM:201550
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly, Brachycephaly, Midface retrusion ORPHA:35099
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip OMIM:600251
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly, Microcephaly ORPHA:2898
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, High palate, Brachycephaly, Narrow mouth ORPHA:2528
Anencephaly 2
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Clark-Baraitser Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Sandal gap, Microcephaly, Brachycephaly, Downt... OMIM:617752
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly OMIM:309545
Kleefstra Syndrome 2
Microcephaly, Plagiocephaly, Everted lower lip vermilion, Midface retrusion, Bifid uvula OMIM:617768
Sporadic Fetal Brain Disruption Sequence
Prominent occiput, Plagiocephaly, Microcephaly ORPHA:1665
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange... ORPHA:94066
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Brachyda... OMIM:600325
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Parietal Foramina 1
Parietal foramina, Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion OMIM:616898
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... OMIM:614416
2Q32Q33 Microdeletion Syndrome
Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Microcephaly, Brachyceph... ORPHA:251019
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Talipes equinovarus, Tented upper lip vermilion, Brachycephaly, Long philtrum OMIM:619972
Craniosynostosis 2
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... OMIM:604757
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal distal phalanx morphology of finger, Microcephaly, Brachycephaly, Furrowed tongue, Ulnar... ORPHA:1387
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brachycephaly, Cone-shap... OMIM:602849
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Sandal gap, Microcephaly, Tapered finger, Cleft lip, Narrow mouth, Small hand, Cleft palate, Plag... OMIM:618089
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Microcephaly, Cleft lip, Pierre-Robin sequence, Brachycephaly, Cleft pa... OMIM:619504
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Split hand, Brachycephaly, Cleft p... ORPHA:2145
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... OMIM:605282
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Craniosynostosis 6
Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachycephaly, Plagiocephaly, Ri... OMIM:616602
Microphthalmia, Syndromic 8
Microcephaly, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central inc... OMIM:601349
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig... ORPHA:314575
Acropectorovertebral Dysplasia
Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, High, narrow palate,... ORPHA:957
Diprosopus
Non-midline cleft lip, Cleft palate ORPHA:1681
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Dental crowding, Arachnodactyly, Adducted thumb, Brachycephaly, High palate, Bil... OMIM:615539
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Tetraploidy
Microcephaly, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing, Intrauterine ... ORPHA:3305
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal wide... ORPHA:440354
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ... ORPHA:60015
Schisis Association
Encephalocele, Spina bifida, Microcephaly, Micromelia, Anencephaly, Tracheoesophageal fistula, Cl... ORPHA:63862
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod... OMIM:602418
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Clef... OMIM:607597
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Oligodontia, Cleft soft palate, Gingival overgrowth, Mesomelia, Umbilical hernia... OMIM:616331
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Cleft palate, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly, ... OMIM:618265
Acrofrontofacionasal Dysostosis
Brachydactyly, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Brachycephaly, Cleft p... ORPHA:1784
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... ORPHA:93258
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Syndactyly, Brachydactyly, Intestinal malrotation, Microcephaly, Veloph... OMIM:614701
Muenke Syndrome
Tarsal synostosis, High, narrow palate, Brachycephaly, Plagiocephaly, Short foot, Short palm, Car... ORPHA:53271
Lymphatic Malformation 5
Cleft palate OMIM:153200
Aica-Ribosiduria
Wide mouth, Thin upper lip vermilion, Brachycephaly ORPHA:250977
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Flat occiput, High, narrow palate, Submucous cleft ha... ORPHA:2780
Osteogenesis Imperfecta, Type Xx
Tented upper lip vermilion, Microcephaly, Brachycephaly, Narrow palate, Agenesis of permanent tee... OMIM:618644
Orofaciodigital Syndrome V
Frontal bossing, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, H... OMIM:174300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Microcephaly, Cle... OMIM:614749
Cdags Syndrome
Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha... OMIM:603116
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Dysostosis, Stanescu Type
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abnormality of the denti... ORPHA:1798
Achard Syndrome
Broad skull, Arachnodactyly, Brachycephaly OMIM:100700
Atelosteogenesis Type Ii
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... ORPHA:56304
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Narrow mouth, Brachycephaly, Cleft palate, Mi... ORPHA:1790
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis... ORPHA:85199
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Thick lower lip vermilion, Cranial asymmetry, Long philtrum ORPHA:137634
Faciocardiorenal Syndrome
Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum ORPHA:1973
Baller-Gerold Syndrome
Frontal bossing, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasi... ORPHA:1225
Crouzon Syndrome
Frontal bossing, Dental crowding, Sagittal craniosynostosis, Brachycephaly, High palate, Lambdoid... OMIM:123500
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Craniosynostosis, Proboscis, Postaxial polydactyly, Postaxial han... OMIM:605627
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Craniosynostosis And Dental Anomalies
Flat occiput, Dental crowding, Brachycephaly, Coronal craniosynostosis, High palate, Short phalan... OMIM:614188
Raine Syndrome
Natal tooth, Bowing of the long bones, Micromelia, Protruding tongue, Microcephaly, Long hallux, ... OMIM:259775
Holoprosencephaly 7
Frontal bossing, Bilateral cleft palate, Flat occiput, Median cleft lip, Bilateral cleft lip, Mic... OMIM:610828
Holoprosencephaly 3
Proboscis, Microcephaly, Cleft lip, Cleft palate, Midface retrusion, Solitary median maxillary ce... OMIM:142945
Orofaciodigital Syndrome Type 2
Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Hamartoma of tong... ORPHA:2751
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Cranial asymmetry, Camptodactyly of 2nd-5th fingers, Talipes equ... OMIM:609128
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Unilateral cleft palate, Craniosynostosis, Abnormality of the d... ORPHA:1299
Baller-Gerold Syndrome
Brachycephaly, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida occulta, Bi... OMIM:218600
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Peroxisome Biogenesis Disorder 12A (Zellweger)
Scaphocephaly, Cranial asymmetry, Microcephaly OMIM:614886
Frontofacionasal Dysplasia
Cleft upper lip, Brachycephaly, Orofacial cleft, Bifid uvula, Cranium bifidum occultum, Midface r... OMIM:229400
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormal toe morphology, Abnormal finger morphology, Abnormality of dental color, Cranial asymmetry OMIM:163200
Wiedemann-Rautenstrauch Syndrome
Downturned corners of mouth, Short philtrum, Premature loss of teeth, Long toe, Cranial asymmetry... ORPHA:3455
Brugada Syndrome
ORPHA:130

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 Slmap

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 Slmap.

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

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
Slmaptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slmapem1(IMPC)J Exon Deletion Mice
Slmaptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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