Gene Summary

Name:
HECT domain E3 ubiquitin protein ligase 2
Synonyms:
A630025O09Rik

IMPC Data Collections

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
decreased bone mineral content Hectd2tm1b(KOMP)Wtsi HOM   Early adult 1.07×10-05
increased grip strength Hectd2tm1b(KOMP)Wtsi HOM Early adult 5.29×10-05
abnormal scapula morphology Hectd2tm1b(KOMP)Wtsi HOM Early adult 1.96×10-07
abnormal epididymis morphology Hectd2tm1b(KOMP)Wtsi HOM Early adult 0.00

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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue 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)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium 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)
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 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 50% (1 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Echo

M-Mode Images

32 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

7 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Hectd2 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 Hectd2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Carpal s... ORPHA:93320
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Flared metaphysis, Delayed ossification of pubic rami, Scapulohumeral synos... OMIM:602471
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... OMIM:169550
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Hypoplasia of the capi... ORPHA:85166
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplastic acetabulae, Irregular epiphyses, Genu valgum, Iliac crest serra... OMIM:607326
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Hypoplastic pelvis, Short clavicles, Bowed humerus OMIM:618022
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Ivory epiphyses, Hypoplastic scapulae, Cone-shaped epiphysis, Short 1st metac... OMIM:210720
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplastic iliac wing, Genu valgum, Multicentric ossification of proximal ... OMIM:223800
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Femoral bowing, Dumbbell-shaped long bone, Brachydactyly, Metaphyseal widen... ORPHA:440354
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Brachydactyly, Short great... OMIM:187601
Schneckenbecken Dysplasia
Hypoplastic scapulae, Advanced tarsal ossification, Dumbbell-shaped long bone, Brachydactyly, Sho... OMIM:269250
Cleidocranial Dysplasia
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu... ORPHA:1452
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Humeroradial synostosis, Brac... ORPHA:93333
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Polydactyly, Bowing of the long bones, Post... OMIM:614091
Cousin Syndrome
Hypoplastic scapulae, Ambiguous genitalia, female, Hypoplastic iliac wing, Fibular aplasia, Dislo... OMIM:260660
Osteoglophonic Dysplasia
Osteopenia, Hypoplastic scapulae, Broad thumb, Short thumb, Camptodactyly of finger, Cryptorchidi... OMIM:166250
Campomelic Dysplasia
Small abnormally formed scapulae, Femoral bowing, Tibial bowing, Fibular hypoplasia, Bowing of th... ORPHA:140
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Uterus didelphys, Rudimentary fibula, Rudimentary to abs... ORPHA:958
Fibrochondrogenesis 1
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Broad long bones, Fibular hypoplasia, Narro... OMIM:228520
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Bowing... OMIM:200600
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Clinodactyly, Abnormal female external genitalia morphology, Cryptorchidism... ORPHA:95699
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Cryptorchidism, Fibular hypoplasia, Dumbbell-shaped long ... ORPHA:3144
Ulnar-Mammary Syndrome
Small scrotum, Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Shawl scrotu... OMIM:181450
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Femoral retroversion OMIM:607371
Floating-Harbor Syndrome
Varicocele, Broad thumb, Short 1st metacarpal, Dislocated radial head, Glandular hypospadias, Sho... OMIM:136140
Van Den Ende-Gupta Syndrome
2-3 toe cutaneous syndactyly, Hypoplastic scapulae, Long metacarpals, Camptodactyly of 2nd-5th fi... OMIM:600920
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Femoral retroversion ORPHA:79107
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia of the distal phalan... OMIM:308050
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Uterus didelphys, Rudimentary fibula, Rudimentary to absent... OMIM:200980
Cleidocranial Dysplasia 1
Aplastic clavicle, Hypoplastic scapulae, Hypoplastic iliac wing, Cone-shaped epiphyses of the pha... OMIM:119600
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy... OMIM:114290
Bartsocas-Papas Syndrome 1
Absent external genitalia, Hypoplastic scapulae, Absent thumb, Short thumb, Bilateral cryptorchid... OMIM:263650
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Osteopenia, Hypoplastic scapulae, Varus deformity of humeral... OMIM:252500
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Clinodactyly, Short thumb, Dislocated radial head, Avascular necr... ORPHA:2044
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal diaphysis morphology, Camptodactyly of finger, Brachydactyly, Abno... ORPHA:2021
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Ambiguous genitalia, Brachydact... OMIM:269860
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Cone-shaped epiphyses of... OMIM:309350
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Cryptorchidism, Sma... ORPHA:96334
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus, Bicornuate uterus, Hypospadias OMIM:137920
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Ulnar deviation of thumb, Radioulnar synostos... OMIM:142900
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Cryptorchidism, Decreased skull ossification,... OMIM:216340
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Camptodactyly of finger, Clubbing of fingers, Flexion cont... OMIM:256040
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Cryptorchidism, Small toe, Oligozoospermia, Micropenis, Clinoda... ORPHA:3310

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 Hectd2

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 Hectd2.

No publications found that use IMPC mice or data for Hectd2.

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
Hectd2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hectd2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hectd2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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