Gene Summary

Name:
interleukin 17 receptor D
Synonyms:
2810004A10Rik,  Sef,  Sef-S

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
abnormal heart left ventricle morphology Il17rdtm1b(EUCOMM)Hmgu HOM Early adult 5.48×10-05
decreased bone mineral density Il17rdtm1b(EUCOMM)Hmgu HOM Early adult 8.20×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Oviduct  Wholemount images heterozygote 40% (2 of 5)
Testis  Wholemount images heterozygote 40% (2 of 5)
Adrenal gland N/A heterozygote 0.0% (0 of 5)
Aorta N/A heterozygote 0.0% (0 of 5)
Bone N/A heterozygote 0.0% (0 of 5)
Brain N/A heterozygote 0.0% (0 of 5)
Brainstem N/A heterozygote 0.0% (0 of 5)
Brown adipose tissue N/A heterozygote 0.0% (0 of 5)
Cartilage tissue N/A heterozygote 0.0% (0 of 5)
Cerebellum N/A heterozygote 0.0% (0 of 5)
Cerebral cortex N/A heterozygote 0.0% (0 of 5)
Esophagus N/A heterozygote 0.0% (0 of 5)
Eye N/A heterozygote 0.0% (0 of 5)
Gall bladder N/A heterozygote 0.0% (0 of 5)
Heart N/A heterozygote 0.0% (0 of 5)
Hippocampus N/A heterozygote 0.0% (0 of 5)
Hypothalamus N/A heterozygote 0.0% (0 of 5)
Kidney N/A heterozygote 0.0% (0 of 5)
Large intestine N/A heterozygote 0.0% (0 of 5)
Liver N/A heterozygote 0.0% (0 of 5)
Lower urinary tract N/A heterozygote 20% (1 of 5)
Lung N/A heterozygote 0.0% (0 of 5)
Lymph node N/A heterozygote 0.0% (0 of 5)
Mammary gland N/A heterozygote 0.0% (0 of 5)
Olfactory lobe N/A heterozygote 0.0% (0 of 5)
Oral epithelium N/A heterozygote 0.0% (0 of 5)
Ovary N/A heterozygote 0.0% (0 of 5)
Pancreas N/A heterozygote 0.0% (0 of 5)
Parathyroid gland N/A heterozygote 0.0% (0 of 5)
Peripheral nervous system N/A heterozygote 0.0% (0 of 5)
Peyer's patch N/A heterozygote 0.0% (0 of 5)
Pituitary gland N/A heterozygote 0.0% (0 of 5)
Prostate gland N/A heterozygote 0.0% (0 of 5)
Skeletal muscle N/A heterozygote 0.0% (0 of 5)
Skin N/A heterozygote 0.0% (0 of 5)
Small intestine N/A heterozygote 0.0% (0 of 5)
Spinal cord N/A heterozygote 0.0% (0 of 5)
Spleen N/A heterozygote 0.0% (0 of 5)
Stomach N/A heterozygote 0.0% (0 of 5)
Striatum N/A heterozygote 0.0% (0 of 5)
Thymus N/A heterozygote 0.0% (0 of 5)
Thyroid gland N/A heterozygote 0.0% (0 of 5)
Trachea N/A heterozygote 0.0% (0 of 5)
Uterus N/A heterozygote 0.0% (0 of 5)
Vascular system N/A heterozygote 0.0% (0 of 5)
White adipose tissue N/A heterozygote 0.0% (0 of 5)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 50% (1 of 2)
Ear N/A heterozygote Not available
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 50% (1 of 2)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote 50% (1 of 2)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 50% (1 of 2)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 50% (1 of 2)
Heart N/A heterozygote Not available
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 50% (1 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 50% (1 of 2)
Liver N/A heterozygote Not available
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote Not available
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote 50% (1 of 2)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 50% (1 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.2% (6 of 500)
ear 0.2% (1 of 492)
embryo 0.4% (2 of 495)
eye 0.2% (1 of 491)
footplate 0.2% (1 of 496)
forebrain 0.2% (1 of 497)
forelimb 0.2% (1 of 494)
handplate 0.2% (1 of 491)
head 1.02% (5 of 492)
heart 0.2% (1 of 501)
hindbrain 1% (5 of 498)
hindlimb 0.2% (1 of 488)
liver 0.21% (1 of 479)
lung 0.21% (1 of 482)
mandibular process 0.2% (1 of 494)
maxillary process 0.2% (1 of 498)
midbrain 0.2% (1 of 493)
oral cavity 0.2% (1 of 491)
skin 0.2% (1 of 489)
tail 0.2% (1 of 491)
tail somite group 0.2% (1 of 491)

Associated Images

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

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

15 Images

Embryo LacZ

LacZ images wholemount

3 Images

Adult LacZ

LacZ Images Wholemount

2 Images

X-ray

XRay Images Hind Leg and Hip

3 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Il17rd 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 Il17rd by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Kallmann Syndrome
Recurrent fractures, Reduced bone mineral density ORPHA:478

The table below shows human diseases predicted to be associated to Il17rd by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Abnormal auditory ev... ORPHA:99852
Osteoporosis
Osteoporosis OMIM:166710
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Chudley-Mccullough Syndrome
Severe sensorineural hearing impairment, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:604213
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Bilateral Frontoparietal Polymicrogyria
Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Cerebellar ... ORPHA:101070
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia OMIM:616531
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Inferior cerebellar vermis hypo... ORPHA:370022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar dysplasia, Cere... OMIM:615181
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
3-Methylglutaconic Aciduria, Type Iv
Cerebellar dysplasia OMIM:250951
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Joubert Syndrome 23
Cerebellar dysplasia OMIM:616490
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia OMIM:615960
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar hypoplasia, Facial palsy, Cerebellar dysplasia OMIM:613155
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Cerebellar dysplasi... OMIM:613153
Crome Syndrome
Cerebellar dysplasia OMIM:218900
Adult Krabbe Disease
Abnormal pons morphology, EEG abnormality, Abnormal medulla oblongata morphology, Abnormal midbra... ORPHA:206448
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Cerebellar hypoplasia, Vestibular areflexia ORPHA:3240
Intellectual Developmental Disorder, Autosomal Dominant 48
Sensorineural hearing impairment, Dilated fourth ventricle, Cerebellar hypoplasia, Dysgenesis of ... OMIM:617751
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Cerebel... OMIM:619260
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment, Cerebellar atrophy, Hypoplasia of the br... OMIM:193700
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... ORPHA:99027
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Absent mesencephalon, Cerebellar dysplasia OMIM:601374
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal cerebellum morphology, Abnormal motor evoked potentials, Decreased ner... ORPHA:909
47,Xyy Syndrome
Low-set ears, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Abnormal brainstem morph... ORPHA:8
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... ORPHA:101085
Infantile Krabbe Disease
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Prolonged brainstem audit... ORPHA:206436
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... ORPHA:171929
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:216400
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... OMIM:133540
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment ORPHA:79330
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears, Dandy-Walker malformation ORPHA:401973
Kallmann Syndrome
Recurrent fractures, Reduced bone mineral density ORPHA:478

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 Il17rd

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 Il17rd.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Dysregulated Lung Commensal Bacteria Drive Interleukin-17B Production to Promote Pulmonary Fibrosis through Their Outer Membrane Vesicles. Immunity (February 2019) Il17rdtm1a(EUCOMM)Hmgu 30824326

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MGI Allele Allele Type Produced
Il17rdtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Il17rdtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Il17rdtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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