Gene Summary

Name:
troponin I, skeletal, fast 2
Synonyms:
N/A

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 Tnni2tm1.1(KOMP)Vlcg HOM   Early adult 0.00
decreased total body fat amount Tnni2tm1.1(KOMP)Vlcg HET Early adult 5.40×10-08
abnormal skin morphology Tnni2tm1.1(KOMP)Vlcg HET Early adult 0.00
decreased circulating glucose level Tnni2tm1.1(KOMP)Vlcg HET Early adult 2.76×10-05
decreased fasting circulating glucose level Tnni2tm1.1(KOMP)Vlcg HET Early adult 7.50×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 0.0% (0 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex 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)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum 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 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 100% (2 of 2)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 100% (2 of 2)
Embryo N/A heterozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 100% (2 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
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%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
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)
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)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 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)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
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)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
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)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Section

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

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 Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

Histopathology

Images

1 Images

Human diseases caused by Tnni2 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 Tnni2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Tnni2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Cupped ribs, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Acromesomelic Dysplasia 2A
Acromesomelia, Hypoplasia of the ulna, Flexion contracture, Valgus hand deformity, Fibular hypopl... OMIM:200700
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Hypoplasia o... ORPHA:75508
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Limitation of... OMIM:619598
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limitation of knee mobility, Limited elbow movement OMIM:276821
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Achondrogenesis, Type Ia
Hypoplastic ischia, Short ribs, Hypoplasia of the radius, Hypoplastic scapulae, Decreased skull o... OMIM:200600
Omodysplasia 2
Dislocated radial head, Rhizomelic arm shortening, Limited elbow flexion, Short humerus, Short 1s... OMIM:164745
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Elbow flexion contracture, Absent proximal radial epiphyses, Forearm unde... OMIM:249600
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the ulna, Hypoplasia of the radius OMIM:107900
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral heads, Short metatar... OMIM:601438
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Flexion contracture, Scapulohumeral synostosis, Dislocated radial head, Rhizomelia, Hypoplastic s... OMIM:602471
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Joint stiffness, Hypoplasia of the radius, Elbow dislocation, Metatarsus ... ORPHA:2249
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Short metacarpal, Hypoplastic acetabul... OMIM:607326
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Distal ulnar hypoplasia, Micrognathia OMIM:277150
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Abse... OMIM:142900
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Neonatal death,... OMIM:187601
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Craniosynostosis, Cone-shaped metacarpal epiphyses, Coxa valga, Short ... OMIM:250215
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Single transverse palmar crease, Fibular hypoplasia, Short 5th finger, Hy... OMIM:227270
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Broad palm, Rhizomelic arm shortening, Hypoplastic il... OMIM:223800
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormality of the ulna, Joint stiffness, Abnormality of ulnar metaphys... ORPHA:1040
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormality of pelvic girdle bone morphology, Osteopenia, Flexion contracture, Rhizomelia, Microg... OMIM:222765
Rhizomelic Chondrodysplasia Punctata, Type 5
Narrow iliac wing, Metaphyseal irregularity, Thoracic scoliosis, Irregular capital femoral epiphy... OMIM:616716
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Split foot, Aplasia/Hypoplasia of the radius ORPHA:1122
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Small hand, B... OMIM:228520
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Neon... OMIM:187600
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Short thorax, Hypop... ORPHA:85166
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Ectrodac... ORPHA:2878
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Hypoplastic iliac wi... OMIM:210720
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Pectus excavatum, Micrognathia, Joint hypermobility, Hypoplastic distal ... OMIM:602196
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Pelviscapular Dysplasia
Brachydactyly, Abnormality of the joint spaces of the elbow, Congenital hip dislocation, Hypoplas... ORPHA:93333
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Postaxial hand polydactyly, Short humerus, Aplasia/Hypoplasia of the ulna, Abnormalit... ORPHA:2491
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Dumbbell-shaped long b... ORPHA:440354
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Deviation of finger, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral... ORPHA:2831
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia OMIM:610021
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Brachydactyly, Short ... OMIM:186500
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Atelosteogenesis, Type I
Vertebral hypoplasia, 11 pairs of ribs, Micrognathia, Narrow chest, Brachydactyly, Short metatars... OMIM:108720
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Syndactyly OMIM:212780
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Micrognathia, Neonatal death, Mesomelia, Syndactyly OMIM:228940
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Crane-Heise Syndrome
Toe syndactyly, Finger syndactyly, Joint stiffness, Aplastic clavicle, Hypoplastic scapulae, Decr... ORPHA:1512
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Cousin Syndrome
Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Hypoplastic pubic bone, 2-3... OMIM:260660
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short femoral neck, Dislocated radial head, Joi... OMIM:618395
Kyphomelic Dysplasia
Anterior rib cupping, Short metacarpal, Lateral clavicle hook, Tibial bowing, Undulate ribs, Dumb... OMIM:211350
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Supernumerary ribs, Fibular hypoplasia, Short tibia, Short ... OMIM:612447
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Lower limb undergrowth, Craniosynostosis OMIM:218650
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Epiphyseal stippling, ... OMIM:619135
Ivic Syndrome
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... OMIM:147750
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis, Forearm re... OMIM:614900
Fibrochondrogenesis
Brachydactyly, Short ribs, Narrow chest, Hypoplastic scapulae, Abnormal rib morphology, Broad rib... ORPHA:2021
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Short metacarpal, Epiphyseal stip... ORPHA:950
Cleidocranial Dysplasia
Brachydactyly, Abnormal thumb morphology, Hypoplastic inferior ilia, Abnormality of pelvic girdle... ORPHA:1452
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Joint stiffness, Clinodactyly of the 5th finger, Abnormality ... ORPHA:2557
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Absent thumb, Bilateral talipes equinovarus, Hypoplastic scapulae, Hypoplastic pelvis, Short clav... OMIM:618022
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Joint stiffness, Asymmetry of the t... ORPHA:1350
Autosomal Dominant Omodysplasia
Short palm, Rhizomelia, Elbow dislocation, Micrognathia, Short humerus, Short 1st metacarpal ORPHA:93328
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic ischia, Thoracic kyphosis, Hypoplastic sacrum, Short femoral neck, Cone-shaped epiphy... OMIM:304950
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the ulna, Finger syndactyly, Thin ribs, Hypoplastic scapulae, H... ORPHA:958
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Brachydactyly, Bowing of the long bones, Short long bone, Short ribs, Thoracic dysplasia, Narrow ... OMIM:614091
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Abnormal trabecular bone mor... ORPHA:79106
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Prominent deltoid tuberosities, Short femoral neck, Short ribs, Rhizomelia, Short humerus, Short ... OMIM:610319
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Tracheomalacia, Recurrent fractures, Fibular... ORPHA:140
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplastic s... OMIM:169550
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Metaphyseal irregularity, Enlargement of the costochondral junction, Coxa valga, M... OMIM:609052
Van Den Ende-Gupta Syndrome
Craniosynostosis, Dislocated radial head, Lateral clavicle hook, Slender metacarpals, Thin ribs, ... OMIM:600920
3M Syndrome
Hypoplastic ischia, Horizontal ribs, Hypoplastic pubic bone, Hypoplasia of the ulna, Short thorax... ORPHA:2616
Cleidocranial Dysplasia
Absent paranasal sinuses, Micrognathia, Short middle phalanx of the 2nd finger, Hypoplastic iliac... OMIM:119600
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Oligodacty... ORPHA:3258
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... ORPHA:52056
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Abnormal bone ossif... ORPHA:1263
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Later... ORPHA:3144
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Osteoglophonic Dysplasia
Bowing of the long bones, Craniosynostosis, Short palm, Short metacarpal, Rhizomelia, Broad palm,... OMIM:166250
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Ulnar-Mammary Syndrome
Hypoplasia of the ulna, Aplasia of the 3rd finger, Absent radius, Aplasia of the 5th finger, Elbo... OMIM:181450
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormality of the ulna, Synostosis ... ORPHA:1275
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Hypoplasia of the ulna, Micrognathia ORPHA:357175
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Tracheomalacia, Fibular hypoplasia, Poorly ossifi... OMIM:114290
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Melnick-Needles Syndrome
Coxa valga, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Hypoplastic scapul... OMIM:309350
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Osteopenia, Increased bone mineral density, Recurrent fractures, Latera... OMIM:239000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... OMIM:609945
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Hypoplasia of the ulna, Micrognathia OMIM:615162
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of the radius, Micrognathia, Camptodactyly ... ORPHA:246
Mucolipidosis Ii Alpha/Beta
Carpal bone hypoplasia, Osteopenia, Flared iliac wing, Thoracolumbar kyphoscoliosis, Split hand, ... OMIM:252500
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Hypoplasia of the ulna, Foot polydactyly, Missing ribs, Thin ... OMIM:200980
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Single transverse palmar crease, Rhizomelia, Hypoplasia of... OMIM:602613
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Flexion contracture, Short ribs, Epiphyseal stippling, Congenital hip dislo... OMIM:308050
Congenital Disorder Of Glycosylation, Type Ig
Short ribs, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short tibia, Short humerus, Talipes... OMIM:607143
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Abse... OMIM:613091
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormal ilium morphology, Short greater sciatic notch, Squared iliac bones, Abnormal... ORPHA:93314
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Radioulnar disloca... ORPHA:2741
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Flared, irregular ... OMIM:602111
W Syndrome
Clinodactyly, Hypoplasia of the ulna, Elbow dislocation, Metatarsus adductus, Cubitus valgus, Cam... ORPHA:2804
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Thalidomide Embryopathy
Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Triphalangea... ORPHA:3312
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Metatarsus adductus, Cubitus valgus, Camptodactyly, Radial ... OMIM:311450
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Decreased hip abduction, Short femoral neck, Flared iliac wing, Flared humeral metaph... OMIM:183849
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Short metacarpal, Clinodactyly of the 5th finger, Dislocated radial head, Hypoplas... OMIM:617604
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Absent proximal finger flexion creases, Aplasia/Hypop... ORPHA:2839
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Radial club hand, Short metacarpal, Micrognathia, Preaxial hand polydactyly, Broad... ORPHA:1278
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Developmental Malformations-Deafness-Dystonia Syndrome
Micromelia, Hypoplastic scapulae ORPHA:79107
Autosomal Recessive Omodysplasia
Craniosynostosis, Rhizomelia, Elbow dislocation, Micrognathia, Abnormality of the radius, Abnorma... ORPHA:93329
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Abnormality of the hand, Abnormal rib morphology, Narrow chest, Brachydactyly, Bowi... ORPHA:95699
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Finger s... ORPHA:959
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Proximal placement of thumb, Hand polydactyly, Absent radius, Short humerus OMIM:314390
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Bulging of the costochondral jun... OMIM:600081
Atelosteogenesis Type Iii
Absent humerus, Vertebral hypoplasia, Absent radius, Ulnar deviation of the wrist, Laryngotracheo... ORPHA:56305
Duane-Radial Ray Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Absent... OMIM:607323
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip osteoarthritis, Short femoral neck, Broad radial metaphysis, Wide distal femoral metaphysis, ... ORPHA:99642
Dystonia, Juvenile-Onset
Hypoplastic scapulae OMIM:607371
Short-Rib Thoracic Dysplasia 12
Brachydactyly, Bowing of the legs, Bowing of the arm, Horizontal ribs, Short palm, Short thorax, ... OMIM:269860
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly... ORPHA:3320
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Abnormal morpholo... ORPHA:93323
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Panner Disease
Large elbow, Limited elbow extension, Stiff elbow, Abnormality of upper limb joint, Abnormality o... ORPHA:97336
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Distal Trisomy 5Q
Brachydactyly, Absent thumb, Hypoplasia of the ulna, Craniosynostosis, Hypoplasia of the radius, ... ORPHA:96097
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Hypoplasia of the ulna, Patellar hypoplasia, Abse... OMIM:218600
Occipital Horn Syndrome
Coxa valga, Joint laxity, Osteoporosis, Limited knee extension, Pectus excavatum, Limited elbow e... OMIM:304150
Acromesomelic Dysplasia 1
Lower thoracic kyphosis, Acromesomelia, Cone-shaped epiphyses of the phalanges of the hand, Short... OMIM:602875
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Hand oligodactyly, Hypoplasia of the radius, Micrognathia, Proximal radial head dis... OMIM:602418
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Ophthalmomandibulomelic Dysplasia
Coxa valga, Decreased mobility 3rd-5th fingers, Fibular hypoplasia, Radioulnar dislocation, Elbow... OMIM:164900
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
11 pairs of ribs, Micrognathia, Micromelia, Large hands, Hip dislocation, Brachydactyly, Flexion ... OMIM:210710
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Abnormality of the... ORPHA:96334
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Osteoporosis, Osteopenia, Pectus excavatum OMIM:615398
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Broad distal phalanges of all finger... OMIM:218330
Hypophosphatemic Bone Disease
Bowing of the legs, Rickets, Osteomalacia OMIM:146350
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Cono-Spondylar Dysplasia
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short 4th toe, Short humerus, ... ORPHA:420794
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Absent radius, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th f... ORPHA:1352
Shox-Related Short Stature
Ulnar radial head dislocation, Tibial bowing, Micrognathia, Madelung deformity, Lower limb underg... ORPHA:314795
Juberg-Hayward Syndrome
Toe syndactyly, Hammertoe, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Radiou... ORPHA:2319
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the radius, Microg... OMIM:263750
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Radial Ray Hypoplasia With Choanal Atresia
Distally placed thumb, Small thenar eminence, Hypoplasia of the radius, Short thumb OMIM:179270
Omodysplasia 1
Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Limited knee flexion, Limited knee ex... OMIM:258315
Codas Syndrome
Delayed ossification of carpal bones, Absent epiphyses, Short metacarpal, Hypoplasia of the odont... OMIM:600373
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Hypoplasia of the ulna, Absent radius, Clinodactyly of the 5th finger, Micrognathia, Aplasia of t... OMIM:600123
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Deviation of the 5th finger, Genu valgum, Brachydactyly, Flexion contractur... OMIM:143095
Femoral-Facial Syndrome
Toe syndactyly, Missing ribs, Absent vertebra, Hypoplastic acetabulae, Micrognathia, Radioulnar s... OMIM:134780
Pyknoachondrogenesis
Abnormal intramembranous ossification, Hypoplastic ischia, Horizontal ribs, Aplastic pubic bones,... ORPHA:3003
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Abnormal hip bone morphology, Recurrent fractures, Abnormal form of the vertebral bod... ORPHA:93160
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Bulging of the costochondral jun... OMIM:241530
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Unicameral bone... ORPHA:83468
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Abn... ORPHA:1836
Bartsocas-Papas Syndrome 1
Absent thumb, Absent palmar crease, Flexion contracture, Absent radius, Short metacarpal, Short p... OMIM:263650
Microcephaly-Micromelia Syndrome
Craniosynostosis, Absent radius, Oligodactyly, Micrognathia, Abnormal rib morphology, Micromelia,... OMIM:251230
Dyschondrosteosis And Nephritis
Madelung deformity, Short forearm, Ulnar bowing, Short tibia, Radial bowing OMIM:127350
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius ORPHA:3469
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Brachydactyly, Flexion contracture, Trident pelvis, Short humerus, Short long bone, Thoracic hypo... OMIM:619479
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Mesomelia, Tarsal synostosis OMIM:156232
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Sparse bone trabeculae, Recurren... OMIM:300554
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Congenital microthorax, Increased bone mineral density, Osteomalacia OMIM:259660
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Micrognathia, Abnormal... ORPHA:3035
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Bulging of the costochondral jun... OMIM:264700
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Missing ribs, Single transve... OMIM:617866
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Multiple palmar creases, Preaxial polydactyly, Oligodactyly, Mesom... ORPHA:2756
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Holt-Oram Syndrome
Absent thumb, Finger syndactyly, Phocomelia, Joint stiffness, Triphalangeal thumb, Down-sloping s... ORPHA:392
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short ribs, Lateral clavicle hook, Hypoplasia of the radius, Micr... OMIM:617895
Multiple Osteochondromas
Limitation of knee mobility, Abnormal pelvis bone morphology, Deformed radius, Abnormal morpholog... ORPHA:321
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, 11 pairs of ribs, Congenital hip ... OMIM:117650
Steinfeld Syndrome
Missing ribs, Hypoplasia of the ulna, Phocomelia, Aplasia/Hypoplasia of the thumb, Hypoplasia of ... OMIM:184705
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Narrow chest, Irregular metacarpals, Short ribs,... OMIM:304120
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Short thumb, Metaphyseal... ORPHA:2909
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Aplasia of the ulna, Hand oligodactyly OMIM:276822
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Phocomelia, Short sternum, Short metacarpal, Short ribs, Thin r... ORPHA:3404
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
X-Linked Hypophosphatemia
Genu varum, Upper limb metaphyseal widening, Rachitic rosary, Flattening of the talar dome, Genu ... ORPHA:89936
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Brachymesomelia-Renal Syndrome
Single transverse palmar crease, Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulna... OMIM:113470
Ivic Syndrome
Synostosis of carpal bones, Joint stiffness, Triphalangeal thumb, Aplastic clavicle, Hypoplasia o... ORPHA:2307
Alagille Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Micrognathia, Abnormal rib morphology, Sh... ORPHA:52
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Shallow acetabular fossae, Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar syn... OMIM:605432
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Abnormality of epiphysis morphology, Rhizomelia, Triphalangeal thumb, Micrognathia... ORPHA:3098
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Osteopenia, Recurrent fractures, Multiple prenatal fractures, S... OMIM:610915
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Bulging of the costochondral jun... OMIM:277440
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Foot polydactyly, Phocomelia, Missing ribs, Aplasia/Hypoplasia of the thu... ORPHA:3186
Nail-Patella Syndrome
Thickening of the lateral border of the scapula, Iliac horns, Disproportionate prominence of the ... OMIM:161200
Fanconi Anemia, Complementation Group O
Absent thumb, Hypoplasia of the radius, Short thumb OMIM:613390
Sc phocomelia syndrome
Clinodactyly, Phocomelia, Absent radius, Short thumb, Micrognathia, Knee flexion contracture, Apl... OMIM:269000
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Tibial torsion, Hip ... OMIM:274000
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... OMIM:276820
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Short toe, Genu valgum, Thoracic scoliosi... OMIM:619636
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Brachydactyly, Short metacarpal, Rhizomelic arm shortening, Abnormal thorax morphology, Short hum... ORPHA:508542
Occipital Horn Syndrome
Osteoporosis, Osteomalacia, Narrow chest, Genu valgum, Hip dysplasia, Rickets, Hip dislocation, B... ORPHA:198
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Enlargement of the costochondral junction, Sparse bone trabeculae, Enlargement of the... ORPHA:289157
Trisomy 4P
Radial club hand, Camptodactyly of finger, Preaxial hand polydactyly ORPHA:1738
Al-Gazali Syndrome
Bilateral talipes equinovarus, Osteopenia, Recurrent fractures, Micrognathia, Broad distal phalan... OMIM:609465
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Hypophosphatemic rickets, Growth delay, Osteomalacia, Short stature, Increase... ORPHA:157215
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Absent forearm, Aplasia/Hypoplasia of the ... OMIM:119100
Fanconi Renotubular Syndrome 3
Bowing of the legs, Rickets OMIM:615605
Phocomelia, Schinzel Type
Bowing of the long bones, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hypoplasia ... ORPHA:2879
Dent Disease 1
Bowing of the legs, Metaphyseal irregularity, Bulging epiphyses, Sparse bone trabeculae, Recurren... OMIM:300009
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Microgastria-Limb Reduction Defects Association
Absent thumb, Hypoplasia of the ulna, Hand oligodactyly, Phocomelia, Hypoplasia of the radius OMIM:156810
Yunis-Varon Syndrome
Clinodactyly, Decreased calvarial ossification, Absent middle phalanx of 2nd finger, Absent stern... OMIM:216340
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Fibular duplication, Short fo... OMIM:135750
Nager Syndrome
Joint stiffness, Phocomelia, Aplasia/Hypoplasia of the thumb, Triphalangeal thumb, Hypoplasia of ... ORPHA:245
Atelosteogenesis, Type Iii
Hitchhiker thumb, Widened distal phalanges, Sandal gap, Tibial bowing, Rhizomelia, Elbow dislocat... OMIM:108721
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint stiffness, Coxa valga, Severe short stature, Osteoporosis, Osteomalacia, Scolio... ORPHA:1901
Rhyns Syndrome
Brachydactyly, Osteopenia, Radial bowing, Short femoral neck OMIM:602152
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly, Aplasia... ORPHA:2378
Seckel Syndrome 1
Hypoplasia of proximal radius, Single transverse palmar crease, Elbow flexion contracture, Cone-s... OMIM:210600
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Rickets, Osteomalacia ORPHA:89937
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Bowed forearm bones, Absent radius, Forearm undergrowth OMIM:602200
Fibrous Dysplasia Of Bone
Bowing of the long bones, Cortical irregularity, Abnormality of the ulna, Abnormal pelvis bone mo... ORPHA:249
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metaca... OMIM:617247
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... ORPHA:289176
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, 11 pairs of ribs, Osteoporosis, Micrognathia, Abnormal rib cage m... OMIM:271640
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Osteopenia, Multiple prenatal fractures, Short ribs, Decreased fibular diame... OMIM:616897
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Renal Dysplasia-Limb Defects Syndrome
Phocomelia, Short sternum, Short metacarpal, Short ribs, Thin ribs, Hypoplasia of the radius, Mic... OMIM:266910
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture, Elbow flexion contracture, Hypoplastic scapulae, Long fingers, Flexion contr... OMIM:256040
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Boomerang Dysplasia
Neonatal death, Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Fanconi Anemia
Toe syndactyly, Abnormality of the ulna, Hypoplasia of the ulna, Abnormal thumb morphology, Finge... ORPHA:84
Infantile Systemic Hyalinosis
Brachydactyly, Joint stiffness, Osteopenia, Recurrent fractures, Short palm, Severe short stature... ORPHA:2176
Ulnar-Mammary Syndrome
Aplasia of the pectoralis major muscle, Abnormal clavicle morphology, Abnormality of the radius, ... ORPHA:3138
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Short femur, Short humerus, Polydactyly ORPHA:17
Yunis-Varon Syndrome
Absent sternal ossification, Abnormal pelvis bone morphology, Aplasia/Hypoplasia of the clavicles... ORPHA:3472
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Hip dysplasia, Hip dislocation, Absent r... ORPHA:93322
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Clinodactyly, Toe syndactyly, Absent radius, Aplasia/Hypoplasia of the thumb, Triph... OMIM:154400
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Stillbirth OMIM:276950
Sheldon-Hall Syndrome
Abnormal hip bone morphology, Joint stiffness, Overlapping fingers, Micrognathia, Adducted thumb,... ORPHA:1147
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Ulnar bowing, Micromelia, Radial bowing, Aplasia/Hypoplasia of the radius ORPHA:1765
Roberts Syndrome
Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Mesomelic arm shortening, Brachydactyly... ORPHA:3103
Tarp Syndrome
Clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, Short sternum, Hypoplasia of... OMIM:311900
Tetrasomy 9P
Missing ribs, Aplasia/Hypoplasia of the clavicles, Clinodactyly of the 5th finger, Hypoplastic sc... ORPHA:3310
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Long toe, Thin ribs, Large hands, Micrognathia, Long fingers, Short humerus,... OMIM:264090
Hypophosphatasia, Adult
Recurrent fractures, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Ri... OMIM:146300
Fanconi Anemia, Complementation Group W
Absent thumb, Abnormality of radial ray, Hypoplasia of the radius OMIM:617784
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Fanconi Anemia, Complementation Group I
Absent thumb, Hypoplasia of the radius, Short thumb, Fused cervical vertebrae, Short 1st metacarpal OMIM:609053
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Flexion contracture, Coronal craniosynostosis, Rocker bottom foot, U... OMIM:207410
Propionic Acidemia
Hypoglycemia ORPHA:35
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Tetraploidy
Radial club hand, Micrognathia ORPHA:3305
Fanconi Renotubular Syndrome 2
Short stature, Osteopenia, Rickets OMIM:613388
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Finger symphalangism, Missing ribs, A... ORPHA:2911
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Failure to thrive, Rickets OMIM:602722
Fanconi Anemia, Complementation Group P
Absent thumb, Hypoplasia of the radius, Short thumb, Micrognathia OMIM:613951
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Abnormality of the radius ORPHA:2165
Marshall Syndrome
Small proximal tibial epiphyses, Irregular distal femoral epiphysis, Coxa valga, Irregular proxim... OMIM:154780
Radial Aplasia, X-Linked
Absent radius OMIM:312190
Dent Disease
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recurrent fractures, Sparse bone... ORPHA:1652
Radial-Renal Syndrome
Absent thumb, Absent radius OMIM:179280
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Postaxial foot polydactyly, Abnormal thorax morphology, Aplasia/Hypoplasia of the tibia, Talipes ... OMIM:601027
Wiedemann-Rautenstrauch Syndrome
Thin long bone diaphyses, Osteopenia, 2-3 toe syndactyly, Long toe, Hypoplastic vertebral bodies,... ORPHA:3455
Radio-Renal Syndrome
Brachydactyly, Short palm, Hypoplasia of the radius, Micrognathia, Abnormal rib morphology, Micro... ORPHA:3015
Cholestasis, Progressive Familial Intrahepatic, 1
Short stature, Failure to thrive, Osteopenia, Rickets OMIM:211600
Spondylocarpotarsal Synostosis Syndrome
Brachydactyly, Carpal synostosis, Abnormality of pelvic girdle bone morphology, Block vertebrae, ... OMIM:272460
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Failure to thrive, Rickets OMIM:611590
Lacrimoauriculodentodigital Syndrome
Small thenar eminence, Hypoplasia of the ulna, Absent radius, Bilateral triphalangeal thumbs, Cli... OMIM:149730
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal distal phalanx morphology of finger, Clinodactyly of the 5th finger, Osteoporosis, Micro... ORPHA:2636
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Joint hypermobility, Osteomalacia, Elevated amniotic fluid alpha-fetopro... OMIM:309000
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Osteoporosis, Rickets OMIM:560000
Duane Retraction Syndrome
Brachydactyly, Absent radius, Aplasia/Hypoplasia of the thumb, Abnormal vertebral segmentation an... ORPHA:233
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Oligodactyly, Hypoplasia of the radius ORPHA:3016
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Mandibular osteomyelitis, Multiple bony cystic lesions, Abnormal trabecu... ORPHA:83451
Fanconi Renotubular Syndrome 1
Short stature, Rickets, Osteomalacia OMIM:134600
Fanconi-Bickel Syndrome
Bowing of the long bones, Osteopenia, Growth delay, Failure to thrive, Rickets ORPHA:2088
Alagille Syndrome 1
Short distal phalanx of finger, Hypoplasia of the ulna, Abnormal rib morphology OMIM:118450
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Cornelia De Lange Syndrome 1
Supernumerary ribs, Single transverse palmar crease, 2-3 toe syndactyly, Hand oligodactyly, Short... OMIM:122470
Charge Syndrome
Bilateral talipes equinovarus, Hypoplasia of the ulna, Absent radius, Absent tibia, Short thumb, ... OMIM:214800
Neu-Laxova Syndrome
Flexion contracture, Osteopenia, Intrauterine growth retardation, Osteoporosis, Osteomalacia, Mic... ORPHA:2671
Cystinosis
Failure to thrive, Short stature, Delayed puberty, Rickets ORPHA:213
Hypophosphatemic Rickets
Bowing of the long bones, Joint stiffness, Abnormal lower limb bone morphology, Fibrous dysplasia... ORPHA:437
Tarp Syndrome
Clinodactyly, Hypoplasia of proximal radius, Finger syndactyly, Single transverse palmar crease, ... ORPHA:2886
Rothmund-Thomson Syndrome Type 2
Genu varum, Finger symphalangism, Osteopenia, Metaphyseal sclerosis, Patellar hypoplasia, Abnorma... ORPHA:221016
Diamond-Blackfan Anemia 1
Absent thumb, 11 pairs of ribs, Partial duplication of thumb phalanx, Triphalangeal thumb, Short ... OMIM:105650
Fanconi Anemia, Complementation Group F
Absent thumb, Hypoplasia of the radius, Short thumb, 2-3 finger syndactyly OMIM:603467
Mccune-Albright Syndrome
Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Osteomalacia,... ORPHA:562
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Rothmund-Thomson Syndrome Type 1
Genu varum, Finger symphalangism, Osteopenia, Metaphyseal sclerosis, Patellar hypoplasia, Abnorma... ORPHA:221008
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rachitic rosary, Rickets OMIM:612089
Celiac Disease, Susceptibility To, 1
Weight loss, Osteoporosis, Failure to thrive, Short stature, Postnatal growth retardation, Delaye... OMIM:212750
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Failure to thrive, Rickets ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Rickets OMIM:607765
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Short stature, Rickets OMIM:616026
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Growth delay, Osteomalacia, Weight loss, Rickets ORPHA:309031
Fanconi-Bickel Syndrome
Failure to thrive, Osteomalacia OMIM:227810
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Intrauterine growth retardation, Small for gestational age, Slender build, Joint laxi... OMIM:613658
Wilson Disease
Joint hypermobility, Osteoarthritis, Osteoporosis, Osteomalacia OMIM:277900
Vater/Vacterl Association
Absent radius, Preaxial polydactyly, Triphalangeal thumb, Short thumb, Hypoplasia of the radius, ... OMIM:192350
Vacterl With Hydrocephalus
Absence of the sacrum, Hypoplasia of the radius, Hip dislocation, Micrognathia ORPHA:3412
Mosaic Trisomy 16
Clinodactyly, Single transverse palmar crease, Short femoral neck, Short thumb, Abnormal thorax m... ORPHA:1708
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Lacrimoauriculodentodigital Syndrome
Absent thumb, Clinodactyly, Abnormal thumb morphology, Toe syndactyly, Finger syndactyly, Short t... ORPHA:2363
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Growth delay, Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Mirage Syndrome
Radial club hand, Overlapping fingers, Talipes equinovarus, Rocker bottom foot OMIM:617053
Distal Renal Tubular Acidosis
Increased susceptibility to fractures, Growth delay, Osteomalacia, Short stature, Failure to thri... ORPHA:18
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the radius, Toe syndactyly ORPHA:140952
Oculocerebrorenal Syndrome Of Lowe
Joint stiffness, Recurrent fractures, Abnormality of epiphysis morphology, Delayed puberty, Kypho... ORPHA:534
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Tracheomalacia, Fi... ORPHA:444077
Cystinosis, Nephropathic
Weight loss, Failure to thrive in infancy, Delayed puberty, Hypophosphatemic rickets, Growth dela... OMIM:219800
Distal Arthrogryposis Type 1
Abnormal hip bone morphology, Joint stiffness, Rocker bottom foot, Overlapping fingers, Adducted ... ORPHA:1146
Infantile Nephropathic Cystinosis
Growth delay, Failure to thrive, Rickets ORPHA:411629
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Increased susceptibility to fractures, Growth delay, Osteomalacia, Weig... ORPHA:3337
Pallister-Hall Syndrome
Brachydactyly, Broad toe, Polydactyly affecting the 3rd finger, Toe syndactyly, Mesoaxial polydac... ORPHA:672
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Abnormal calcification of the carpal bones, Hypophosphatemic ricket... ORPHA:51608
Arthrogryposis, Distal, Type 2B1
Distal arthrogryposis, Calcaneovalgus deformity, Rocker bottom foot, Metatarsus adductus, Short s... OMIM:601680
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Elevated circulating C-reactive protein concentration, Osteomalacia, Osteomyelitis, Hy... OMIM:619381
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405

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 Tnni2

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 Tnni2.

No publications found that use IMPC mice or data for Tnni2.

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MGI Allele Allele Type Produced
Tnni2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Tnni2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tnni2tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Tnni2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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