Gene Summary

Name:
scleraxis
Synonyms:
Scl,  bHLHa41

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
preweaning lethality, complete penetrance Scxtm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 0.0% (0 of 6)
Heart atrium N/A homozygote 0.0% (0 of 1)
Axial skeleton N/A heterozygote 0.0% (0 of 6)
Axial skeleton N/A homozygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 9)
Brain N/A homozygote 0.0% (0 of 1)
Central nervous system ganglion N/A heterozygote 66.67% (6 of 9)
Central nervous system ganglion N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 8)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 100% (9 of 9)
Ear N/A homozygote 100% (1 of 1)
Embryo N/A heterozygote 100% (9 of 9)
Embryo N/A homozygote 100% (1 of 1)
Outer ear N/A heterozygote 0.0% (0 of 9)
Outer ear N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 9)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 9)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 9)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 9)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 6)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Gut N/A heterozygote 0.0% (0 of 6)
Gut N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 9)
Handplate N/A homozygote 0.0% (0 of 1)
Head mesenchyme N/A heterozygote 0.0% (0 of 6)
Head mesenchyme N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 33.33% (3 of 9)
Head N/A homozygote 0.0% (0 of 1)
Heart ventricle N/A heterozygote 0.0% (0 of 6)
Heart ventricle N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 9)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 9)
Hindlimb N/A homozygote 0.0% (0 of 1)
Inner ear N/A heterozygote 100% (9 of 9)
Inner ear N/A homozygote 100% (1 of 1)
Liver N/A heterozygote 0.0% (0 of 9)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 9)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 9)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 9)
Maxillary process N/A homozygote 0.0% (0 of 1)
Meckel's cartilage N/A heterozygote 16.67% (1 of 6)
Meckel's cartilage N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 9)
Midbrain N/A homozygote 0.0% (0 of 1)
Nasal septum N/A heterozygote 0.0% (0 of 7)
Nasal septum N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 7)
Nose N/A homozygote 0.0% (0 of 1)
Notochord N/A heterozygote 0.0% (0 of 6)
Notochord N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 9)
Oral cavity N/A homozygote Ambiguous
Outflow tract N/A heterozygote 0.0% (0 of 6)
Outflow tract N/A homozygote 0.0% (0 of 1)
N/A heterozygote 0.0% (0 of 6)
N/A homozygote 0.0% (0 of 1)
Pharynx N/A heterozygote Ambiguous
N/A Ambiguous
Skeleton N/A heterozygote 14.29% (1 of 7)
Skeleton N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 9)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 12.5% (1 of 8)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 9)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 9)
Tail N/A homozygote 0.0% (0 of 1)
Tongue N/A heterozygote 0.0% (0 of 6)
Tongue N/A homozygote 0.0% (0 of 1)
Trunk mesenchyme N/A heterozygote 0.0% (0 of 6)
Trunk mesenchyme N/A homozygote 0.0% (0 of 1)
Vibrissa N/A heterozygote 0.0% (0 of 6)
Vibrissa N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.67% (1 of 60)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
head mesenchyme 1.67% (1 of 60)
heart 0.2% (1 of 508)
heart ventricle 1.67% (1 of 60)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
inner ear 1.56% (1 of 64)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
meckel's cartilage 0.0%
midbrain 0.2% (1 of 508)
nasal septum 1.67% (1 of 60)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
outflow tract 1.67% (1 of 60)
pericardium 1.82% (1 of 55)
pharynx 1.79% (1 of 56)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
tongue 1.82% (1 of 55)
trunk mesenchyme 1.67% (1 of 60)
vibrissa 1.35% (1 of 74)

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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

8 Images

Human diseases caused by Scx 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 Scx by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Limita... OMIM:619598
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Flat capital femoral epiphysis, Talipes equinovarus, Rh... OMIM:601560
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Aplasia/Hypoplasia of the radius, Finge... ORPHA:2019
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphys... OMIM:616716
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Short finger, Metaphyseal widening, Narrow pelvis... OMIM:250215
Omodysplasia 2
Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni... OMIM:164745
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Aplasia of the ulna, Hypoplasia of the radius, ... OMIM:142900
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Genu valgum, Deviation of finger, Coxa vara, Short metacarpal, Short humerus, Deforme... ORPHA:2831
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Hypoplasia of prox... OMIM:184253
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Paresthesia, Hypoplasia of the radius, Short humerus, Aplasia/hypoplasia ... ORPHA:75508
Multiple Synostoses Syndrome 1
Tarsal synostosis, Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Proximal s... OMIM:186500
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Talipes equinovarus, Hypoplastic scapulae, Rhizomelia, Scapulohumeral synostosis, Dislocated radi... OMIM:602471
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Flared metaphysis... OMIM:211350
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Hypoplastic scapulae, Congenital diaphragmatic hernia, Absent thumb, Bowed humer... OMIM:618022
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Upp... ORPHA:2878
Al-Gazali Syndrome
Broad distal phalanx of finger, Wrist flexion contracture, Osteopenia, Proximal radio-ulnar synos... OMIM:609465
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Shoulder flexion contracture, Hip contracture, Large hands, Bowed humerus, Limb undergrowth, Knee... OMIM:210710
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Vertebral fusion, Talipes equinovarus, Capitate-hamate fusion, Block vertebrae... OMIM:272460
Atelosteogenesis Type Iii
Fibular aplasia, Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Absent hum... ORPHA:56305
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flexion contracture, Bowed humerus, Trident pelvis, Short long bone, Short humerus, Brachydactyly OMIM:619479

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 Scx

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 Scx.

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

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MGI Allele Allele Type Produced
Scxtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Scxtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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