Gene Summary

Name:
LY6/PLAUR domain containing 6
Synonyms:
E130115E03Rik

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
scaly skin Lypd6tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal skin morphology Lypd6tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal testis morphology Lypd6tm1b(KOMP)Wtsi HET Early adult 0.00
small superior vagus ganglion Lypd6tm1b(KOMP)Wtsi HET Early adult 0.00
hydrometra Lypd6tm1b(KOMP)Wtsi HET Early adult 0.00
preweaning lethality, incomplete penetrance Lypd6tm1b(KOMP)Wtsi HOM   Early adult 0.00
thick skin Lypd6tm1b(KOMP)Wtsi HET Early adult 0.00
small testis Lypd6tm1b(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

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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
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

27 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

X-ray

XRay Images Forepaw

1 Images

Human diseases caused by Lypd6 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 Lypd6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Peeling Skin Syndrome 5
Scaling skin, Epidermal acanthosis OMIM:617115
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Scaling skin, Palmoplantar scaling skin, Dry skin, Erythema ORPHA:530838
Peeling Skin Syndrome 3
White scaling skin, Erythema OMIM:616265
Psoriasis 2
Scaling skin, Epidermal acanthosis, Psoriasiform dermatitis OMIM:602723
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin OMIM:105250
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin OMIM:146590
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema OMIM:617571
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Acral Peeling Skin Syndrome
Scaling skin, Excessive wrinkling of palmar skin, Erythema ORPHA:263534
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Epidermolytic Hyperkeratosis 1
Scaling skin, Epidermal acanthosis OMIM:113800
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Cutis laxa, Epidermal acanthosis, Dry skin ORPHA:2269
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Lack of skin elasticity, Erythema ORPHA:281127
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Verrucous Hemangioma
Epidermal acanthosis ORPHA:464318
Idiopathic Localized Lipodystrophy
Scaling skin, Erythema ORPHA:90158
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin OMIM:612952
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormality... ORPHA:168563
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Peeling Skin Syndrome 4
Scaling skin, Epidermal acanthosis OMIM:607936
Ichthyosis With Erythrokeratoderma
Scaling skin, Epidermal acanthosis, Erythema OMIM:620507
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology ORPHA:79147
Hypotrichosis Simplex Of The Scalp
Scaling skin, Epidermal acanthosis ORPHA:90368
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Pemphigus Foliaceus
Scaling skin, Skin vesicle, Acantholysis, Psoriasiform dermatitis, Erythema ORPHA:79481
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Peeling Skin Syndrome 6
Scaling skin, Dry skin OMIM:618084
Ichthyosis, Annular Epidermolytic, 2
Scaling skin, Erythema OMIM:620148
Woodhouse-Sakati Syndrome
Scaling skin, Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia ... ORPHA:3464
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Dry skin, Erythema OMIM:614457
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Cutaneous Mastocytoma
Scaling skin, Erythema ORPHA:79455
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema OMIM:617526
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Epidermal acanthosis, Dry skin OMIM:612281
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin OMIM:146700
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Ichthyosis With Confetti
Scaling skin, Hypoplastic nipples OMIM:609165
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Mpdu1-Cdg
Scaling skin, Decreased serum insulin-like growth factor 1, Decreased response to growth hormone ... ORPHA:79323
Vulvovaginal Gingival Syndrome
Epidermal acanthosis, Abnormal female external genitalia morphology, Erythema ORPHA:83453
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Epidermal acanthosis, Acantholysis, Dry skin OMIM:616295
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Bathing Suit Ichthyosis
Scaling skin, Epidermal acanthosis ORPHA:100976
Centrifugal Lipodystrophy
Scaling skin, Erythema ORPHA:90156
Ichthyosis, Annular Epidermolytic, 1
Scaling skin, Erythema OMIM:607602
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Psoriasiform lesion ORPHA:284426
Congenital Disorder Of Glycosylation, Type If
Scaling skin, Optic atrophy, Dry skin OMIM:609180
Peeling Skin Syndrome 1
Scaling skin OMIM:270300
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Scaling skin, Dry skin, Multinodular goiter OMIM:618373
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Atrophoderma Vermiculata
Abnormal epidermal morphology, Erythema ORPHA:79100
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Recon Progeroid Syndrome
Scaling skin, Thin skin, Dry skin OMIM:620370
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Bazex Syndrome
Scaling skin ORPHA:166113
Myoectodermal Gonadal Dysgenesis Syndrome
Scaling skin, Gonadal dysgenesis, Dry skin, Clitoral hypoplasia, Elevated circulating follicle st... OMIM:618419
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin, Thyroiditis, Hypothyroidism, Type I diabetes mellitus, Psoriasiform dermatitis OMIM:606367
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin OMIM:604536
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis, White scaling skin OMIM:604777
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Elastosis Perforans Serpiginosa
Cutis laxa, Epidermal acanthosis ORPHA:79148
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Acute Generalized Exanthematous Pustulosis
Scaling skin, Skin vesicle, Acantholysis, Purpura ORPHA:293173
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Mal De Meleda
Epidermal acanthosis, Erythema ORPHA:87503
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Epidermal acanthosis ORPHA:79395
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Acute Radiation Syndrome
Scaling skin, Skin ulcer ORPHA:454831
Diffuse Cutaneous Mastocytosis
Scaling skin ORPHA:79456
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... OMIM:158330
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the u... ORPHA:432
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
White Sponge Nevus 2
Epidermal acanthosis OMIM:615785
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin ORPHA:35173
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar scaling skin, Acantholysis, Palmoplantar erythema OMIM:605676
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Myotonic Dystrophy 1
Testicular atrophy, Facial diplegia, Cholelithiasis, Hypogonadism OMIM:160900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis ORPHA:2199
Neonatal Inflammatory Skin And Bowel Disease
Scaling skin, Psoriasiform dermatitis, Erythema ORPHA:294023
Superficial Epidermolytic Ichthyosis
Thin skin, Acantholysis, Erythema ORPHA:455
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Graft Versus Host Disease
Scaling skin ORPHA:39812
Immunodeficiency 58
Scaling skin, Psoriasiform lesion OMIM:618131
Porphyria Cutanea Tarda
Scaling skin, Diabetes mellitus ORPHA:101330
Bacterial Toxic-Shock Syndrome
Scaling skin, Ecchymosis ORPHA:36234
Kid Syndrome
Scaling skin, Epidermal acanthosis, Psoriasiform dermatitis ORPHA:477
Basan Syndrome
Epidermal acanthosis OMIM:129200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Infantile Digital Fibromatosis
Epidermal acanthosis ORPHA:199267
Proteus Syndrome
Epidermal acanthosis OMIM:176920
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Thyroiditis, Type I diabetes mellitus, Psoriasiform lesion OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion ORPHA:169154
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Singleton-Merten Syndrome 2
Psoriasiform lesion OMIM:616298
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion ORPHA:163525
Hemochromatosis, Type 1
Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Diabetes mellitus, Testicular ... OMIM:235200
Lipoid Proteinosis Of Urbach And Wiethe
Reduced epidermal extracellular matrix protein 1 protein expression OMIM:247100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Acrokeratosis Verruciformis
Epidermal acanthosis, Acantholysis OMIM:101900
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis OMIM:615022
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Congenital Syphilis
Petechiae, Palmoplantar scaling skin, Purpura, Optic atrophy ORPHA:499009
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Scaling skin, Facial erythema, Dry skin ORPHA:1010
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Optic atrophy, Skin ulcer, Dry skin ORPHA:2526
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis OMIM:133200
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis OMIM:616069
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Erythema OMIM:613943
Riddle Syndrome
Scaling skin, Erythema ORPHA:420741
Ichthyosis, Congenital, Autosomal Recessive 2
Epidermal acanthosis, External genital hypoplasia, Erythema OMIM:242100
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Scaling skin, Decreased response to growth hormone stimulation test, Facial erythema, Small pitui... OMIM:619503
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Restrictive Dermopathy
Scaling skin, Hypospadias, Webbed neck, Congenital adrenal hypoplasia, Aplasia/Hypoplastia of the... ORPHA:1662
Wolfram Syndrome 1
Optic atrophy, Diabetes insipidus, Hypothyroidism, Diabetes mellitus, Testicular atrophy OMIM:222300
Rat-Bite Fever
Scaling skin, Parotitis ORPHA:31205
Psoriasis 14, Pustular
Epidermal acanthosis, Psoriasiform dermatitis, Erythema OMIM:614204
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno... OMIM:146255
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis OMIM:148600
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Restrictive Dermopathy 1
Scaling skin, Thin skin, Adrenal hypoplasia, Hypospadias OMIM:275210
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema OMIM:617525
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima... ORPHA:3109
Ectodermal Dysplasia-Skin Fragility Syndrome
Scaling skin, Anoperineal fistula ORPHA:158668
Punctate Palmoplantar Keratoderma Type 1
Prostate cancer, Abnormal epidermal morphology, Epidermal acanthosis, Pancreatic adenocarcinoma ORPHA:79501
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Amenorrhe... ORPHA:465508
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis OMIM:610227
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre... ORPHA:2237
Familial Benign Chronic Pemphigus
Skin vesicle, Acantholysis, Erythema ORPHA:2841
Acrokeratosis Verruciformis Of Hopf
Epidermal acanthosis ORPHA:79151
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scaling skin, Aganglionic megacolon, Hypospadias, Dry skin, Perianal erythema, Cryptorchidism OMIM:308205
Chronic Actinic Dermatitis
Epidermal acanthosis ORPHA:330064
Olmsted Syndrome, X-Linked
Epidermal acanthosis OMIM:300918
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Epidermal acanthosis, Dry skin, Optic disc pallor OMIM:618527
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Facial palsy, Hypergonadotropic hypogonadi... OMIM:157640
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis OMIM:148700
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Psoriasiform lesion ORPHA:85436
Ichthyosis Prematurity Syndrome
Epidermal acanthosis OMIM:608649
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis OMIM:613102
Limb-Mammary Syndrome
Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Dry skin, Bilateral br... ORPHA:69085
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Epidermal acanthosis, Dry skin OMIM:617388
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis ORPHA:38
Huriez Syndrome
Epidermal acanthosis OMIM:181600
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis OMIM:616029
Ichthyosis, Congenital, Autosomal Recessive 1
Epidermal acanthosis OMIM:242300
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th... ORPHA:284339
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Epidermal acanthosis, Dry skin, Bile duct proliferation OMIM:607626
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Cole Disease
Epidermal acanthosis OMIM:615522
Pseudoxanthoma Elasticum
Cutis laxa, Civatte bodies, Optic disc drusen OMIM:264800
Palmoplantar Carcinoma, Multiple Self-Healing
Epidermal acanthosis OMIM:615225
Kawasaki Disease
Scaling skin on fingertip, Palmoplantar erythema ORPHA:2331
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Webbed neck, Supernumerary nipple ORPHA:1521
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Webbed neck, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy ORPHA:3063
Olmsted Syndrome 2
Epidermal acanthosis OMIM:619208
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Odontoonychodermal Dysplasia
Dry skin, Epidermal acanthosis, Palmoplantar erythema, Erythema OMIM:257980
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis, Webbed neck OMIM:614083
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Male sexual dysf... ORPHA:322
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Epidermal acanthosis OMIM:612852
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... ORPHA:273
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Naxos Disease
Epidermal acanthosis, Acantholysis OMIM:601214
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo... OMIM:618280
Loeys-Dietz Syndrome
Thin skin, Uterine rupture, Striae distensae ORPHA:60030
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epidermal acanthosis, Adrenal hypoplasia, Thyroid hypoplasia, Erythema OMIM:308050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Epidermal acanthosis, Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Cryptorchidism,... ORPHA:83617
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Ecchymosis, Cystocele,... OMIM:130050
Wolf-Hirschhorn Syndrome
Hypospadias, Webbed neck, Aplasia of the uterus, Precocious puberty, Cryptorchidism OMIM:194190
Okamoto Syndrome
Redundant neck skin, Bifid uterus, Webbed neck ORPHA:2729
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Pancreatic cysts OMIM:274000
Vascular Ehlers-Danlos Syndrome
Excessive wrinkled skin, Hypospadias, Uterine rupture, Redundant skin, Cryptorchidism, Uterine pr... ORPHA:286
Norrie Disease
Optic atrophy, Delayed puberty, Erectile dysfunction, Cryptorchidism, Diabetes mellitus, Uterine ... ORPHA:649
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc... OMIM:276820
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Hypothyroidism, Bifid ut... OMIM:107480
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:135900
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Bifid uterus, Hypospadias, Abnormal vagina morphology OMIM:236680
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Webbed neck, Labial hypoplasia, Aplasia of the uterus, ... OMIM:601803

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 Lypd6

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 Lypd6.

No publications found that use IMPC mice or data for Lypd6.

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
Lypd6tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Lypd6tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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