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

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 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)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
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)
quadriceps 0.0%
sciatic nerve 0.0%
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)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

27 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

X-ray

XRay Images Forepaw

1 Images

X-ray

XRay Images Hind Leg and Hip

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
Palmoplantar scaling skin, Scaling skin, Dry skin, Erythema ORPHA:530838
Psoriasis 2
Scaling skin, Psoriasiform dermatitis, Epidermal acanthosis OMIM:602723
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Hypogonadism, Scaling skin, Epidermal acanthosis, Dry skin ORPHA:2269
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin OMIM:146590
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema OMIM:617571
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Acral Peeling Skin Syndrome
Scaling skin, Excessive wrinkling of palmar skin, Erythema ORPHA:263534
Epidermolytic Hyperkeratosis
Scaling skin, Epidermal acanthosis OMIM:113800
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin OMIM:105250
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Palmoplantar scaling skin, Erythema ORPHA:281127
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Abnormal internal genitalia, Primary amenorrhea, Aplasia of the uterus,... OMIM:273250
Verrucous Hemangioma
Epidermal acanthosis ORPHA:464318
Idiopathic Localized Lipodystrophy
Scaling skin, Erythema ORPHA:90158
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin OMIM:612952
Acrokeratosis Verruciformis
Epidermal acanthosis OMIM:101900
Lupus Erythematosus Tumidus
Scaling skin ORPHA:90283
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Abnormality of peripheral nerve conduct... ORPHA:168563
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Ovarian Dysgenesis 6
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... OMIM:618078
Familial Reactive Perforating Collagenosis
Diabetes mellitus, Abnormal epidermal morphology ORPHA:79147
Peeling Skin Syndrome 4
Scaling skin, Epidermal acanthosis OMIM:607936
Bathing Suit Ichthyosis
Palmoplantar scaling skin, Scaling skin, Epidermal acanthosis ORPHA:100976
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... ORPHA:3464
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... OMIM:300510
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... OMIM:614841
Peeling Skin Syndrome 6
Scaling skin, Dry skin OMIM:618084
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Pemphigus Foliaceus
Skin vesicle, Scaling skin, Erythema, Acantholysis, Psoriasiform dermatitis ORPHA:79481
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Dry skin, Erythema OMIM:614457
Ovarian Dysgenesis 7
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus OMIM:618117
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
Erythrokeratodermia Variabilis Et Progressiva 4
Epidermal acanthosis, Erythema OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema OMIM:617525
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Cutaneous Mastocytoma
Scaling skin, Erythema ORPHA:79455
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Epidermal acanthosis, Dry skin OMIM:612281
Ichthyosis With Confetti
Scaling skin, Hypoplastic nipples OMIM:609165
Mpdu1-Cdg
Scaling skin, Decreased serum insulin-like growth factor 1, Decreased response to growth hormone ... ORPHA:79323
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Ichthyosis Vulgaris
Dry skin, Absent keratohyalin granules OMIM:146700
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Vulvovaginal Gingival Syndrome
Abnormality of female external genitalia, Epidermal acanthosis, Erythema ORPHA:83453
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... ORPHA:754
Centrifugal Lipodystrophy
Scaling skin, Erythema ORPHA:90156
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Hypotrichosis Simplex Of The Scalp
Scaling skin, Epidermal acanthosis ORPHA:90368
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Psoriasiform lesion ORPHA:284426
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Scaling skin, Epidermal acanthosis, Dry skin OMIM:616295
Premature Ovarian Failure 7
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... OMIM:612964
Congenital Disorder Of Glycosylation, Type If
Scaling skin, Dry skin, Optic atrophy OMIM:609180
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Scaling skin, Dry skin, Multinodular goiter OMIM:618373
Peeling Skin Syndrome 1
Scaling skin OMIM:270300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Premature Ovarian Failure 3
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus OMIM:608996
Atrophoderma Vermiculata
Abnormal epidermal morphology, Erythema ORPHA:79100
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Ichthyosis, Congenital, Autosomal Recessive 5
White scaling skin, Epidermal acanthosis OMIM:604777
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:612310
Skin Fragility-Woolly Hair Syndrome
Palmoplantar scaling skin, Palmoplantar erythema, Acantholysis OMIM:607655
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplastic labia majora, Clitoral hypoplasia, Scaling skin, Elevated circulating luteinizing hor... OMIM:618419
Bazex Syndrome
Scaling skin ORPHA:166113
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Thyroiditis, Type I diabetes mellitus, Scaling skin, Psoriasiform dermatitis OMIM:606367
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin OMIM:604536
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Elastosis Perforans Serpiginosa
Epidermal acanthosis, Cutis laxa ORPHA:79148
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Premature Ovarian Failure 13
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... OMIM:617442
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Mal De Meleda
Epidermal acanthosis, Erythema ORPHA:87503
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Diffuse Cutaneous Mastocytosis
Scaling skin ORPHA:79456
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... OMIM:158330
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Epidermal acanthosis ORPHA:79395
White Sponge Nevus 2
Epidermal acanthosis OMIM:615785
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... ORPHA:90796
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... OMIM:617690
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin ORPHA:35173
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus OMIM:266810
Neonatal Inflammatory Skin And Bowel Disease
Scaling skin, Psoriasiform dermatitis, Erythema ORPHA:294023
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis ORPHA:2199
Myotonic Dystrophy 1
Facial diplegia, Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:168558
Immunodeficiency 58
Scaling skin, Psoriasiform lesion OMIM:618131
Bacterial Toxic-Shock Syndrome
Scaling skin, Ecchymosis ORPHA:36234
Graft Versus Host Disease
Scaling skin ORPHA:39812
Superficial Epidermolytic Ichthyosis
Acantholysis, Thin skin, Erythema ORPHA:455
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Basan Syndrome
Epidermal acanthosis OMIM:129200
Kid Syndrome
Scaling skin, Psoriasiform dermatitis, Epidermal acanthosis ORPHA:477
Porphyria Cutanea Tarda
Scaling skin, Diabetes mellitus ORPHA:101330
Infantile Digital Fibromatosis
Epidermal acanthosis ORPHA:199267
Proteus Syndrome
Epidermal acanthosis OMIM:176920
Singleton-Merten Syndrome 2
Psoriasiform lesion OMIM:616298
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... OMIM:202010
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion ORPHA:169154
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Thyroiditis, Type I diabetes mellitus, Psoriasiform lesion OMIM:614700
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus OMIM:277000
Rare Cutaneous Lupus Erythematosus
Scaling skin, Erythema, Psoriasiform lesion ORPHA:535
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis OMIM:615022
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Skin ulcer, Dry skin, Optic atrophy ORPHA:2526
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... ORPHA:65681
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis OMIM:133200
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Facial erythema, Scaling skin, Dry skin ORPHA:1010
Lumbar Syndrome
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... ORPHA:83628
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis OMIM:616069
Ectodermal Dysplasia-Skin Fragility Syndrome
Scaling skin, Urethral stricture, Anoperineal fistula ORPHA:158668
Riddle Syndrome
Scaling skin, Erythema ORPHA:420741
Estrogen Resistance
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... OMIM:615363
Ichthyosis, Congenital, Autosomal Recessive 8
Epidermal acanthosis, Erythema OMIM:613943
Ichthyosis, Congenital, Autosomal Recessive 2
External genital hypoplasia, Epidermal acanthosis, Erythema OMIM:242100
Wolfram Syndrome 1
Hypothyroidism, Diabetes insipidus, Optic atrophy, Testicular atrophy, Diabetes mellitus OMIM:222300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... ORPHA:90794
Rat-Bite Fever
Scaling skin, Parotitis ORPHA:31205
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unicornuate uterus, Facial erythema, Decreased response to growth hormone stimulation test, Cutis... OMIM:619503
Psoriasis 14, Pustular
Psoriasiform dermatitis, Epidermal acanthosis, Erythema OMIM:614204
Restrictive Dermopathy
Webbed neck, Dermal translucency, Congenital adrenal hypoplasia, Scaling skin, Hypospadias, Aplas... ORPHA:1662
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Pseudopapilledema, Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina,... OMIM:146255
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis OMIM:148600
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... OMIM:305400
Restrictive Dermopathy 1
Thin skin, Hypospadias, Scaling skin, Adrenal hypoplasia OMIM:275210
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Perianal erythema, Aganglionic megacolon, Scaling skin, Hypospadias, Cryptorchidism, Dry skin OMIM:308205
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis OMIM:610227
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Abnormal epidermal morphology, Epidermal acanthosis, Prostate cancer ORPHA:79501
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Parathyroid hypoplasia, Aplasia of the uterus, Diabetes mellitus, Hypoparathyroi... ORPHA:2237
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas... ORPHA:465508
Familial Benign Chronic Pemphigus
Acantholysis, Skin vesicle, Erythema ORPHA:2841
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
Chronic Actinic Dermatitis
Epidermal acanthosis ORPHA:330064
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis OMIM:148700
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis OMIM:613102
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... OMIM:157640
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Psoriasiform lesion ORPHA:85436
Ichthyosis Prematurity Syndrome
Epidermal acanthosis OMIM:608649
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Epidermal acanthosis, Dry skin OMIM:617388
Huriez Syndrome
Epidermal acanthosis OMIM:181600
Limb-Mammary Syndrome
Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Dry skin, Primary ame... ORPHA:69085
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Premat... OMIM:241080
Acrokeratosis Verruciformis Of Hopf
Acantholysis, Epidermal acanthosis ORPHA:79151
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis ORPHA:38
Ichthyosis, Congenital, Autosomal Recessive 1
Epidermal acanthosis OMIM:242300
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis OMIM:616029
Pontocerebellar Hypoplasia Type 7
Ambiguous genitalia, Absent penis, Optic atrophy, Microphallus, Aplasia of the uterus, Gonadal dy... ORPHA:284339
Cole Disease
Epidermal acanthosis OMIM:615522
Popliteal Pterygium Syndrome
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... OMIM:119500
Oeis Complex
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... OMIM:258040
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Epidermal acanthosis, Bile duct proliferation, Dry skin OMIM:607626
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Palmoplantar Carcinoma, Multiple Self-Healing
Epidermal acanthosis OMIM:615225
Pseudoxanthoma Elasticum
Optic disc drusen, Civatte bodies, Cutis laxa OMIM:264800
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
Webbed neck, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism ORPHA:3063
Olmsted Syndrome 2
Epidermal acanthosis OMIM:619208
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus OMIM:271520
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Odontoonychodermal Dysplasia
Palmoplantar erythema, Epidermal acanthosis, Dry skin, Erythema OMIM:257980
Chromosome 17Q12 Deletion Syndrome
Unicornuate uterus, Aplasia of the uterus, Urethral stenosis, Cryptorchidism, Ovarian cyst, Aplas... OMIM:614527
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Webbed neck, Micropenis OMIM:614083
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Epidermal acanthosis OMIM:612852
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... ORPHA:273
Exstrophy-Epispadias Complex
Female sexual dysfunction, Absent penis, Bifid scrotum, Penoscrotal transposition, Male sexual dy... ORPHA:322
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Naxos Disease
Acantholysis, Epidermal acanthosis OMIM:601214
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epidermal acanthosis, Thyroid hypoplasia, Erythema, Adrenal hypoplasia OMIM:308050
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia ORPHA:457284
Loeys-Dietz Syndrome
Thin skin, Uterine rupture, Striae distensae ORPHA:60030
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Epidermal acanthosis,... ORPHA:83617
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Dermal translucency, Uterine rupture, Ecchymosis, Cryptorchidism, Cystoce... OMIM:130050
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Bifid scrotum, Unilateral cryptorchidism, Aplasia of the uterus, Penoscrotal... OMIM:618280
Wolf-Hirschhorn Syndrome
Precocious puberty, Webbed neck, Aplasia of the uterus, Hypospadias, Cryptorchidism OMIM:194190
Okamoto Syndrome
Bifid uterus, Webbed neck, Redundant neck skin ORPHA:2729
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Aplasia of the uterus OMIM:274000
Townes-Brocks Syndrome 1
Hypothyroidism, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Hypospadias, Cryptorchidism, ... OMIM:107480
Vascular Ehlers-Danlos Syndrome
Thin skin, Dermal translucency, Uterine rupture, Redundant skin, Hypospadias, Cryptorchidism, Cys... ORPHA:286
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Hypoplastic n... OMIM:276820
Norrie Disease
Optic atrophy, Uterine rupture, Erectile dysfunction, Diabetes mellitus, Delayed puberty, Cryptor... ORPHA:649
Coffin-Siris Syndrome 1
Aplasia of the uterus, Hypospadias, Clitoral hypertrophy, Cryptorchidism OMIM:135900
Hydrolethalus Syndrome 1
Bifid uterus, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology OMIM:236680
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Pallister-Killian Syndrome
Webbed neck, Labial hypoplasia, Aplasia of the upper vagina, Supernumerary nipple, Hypoplastic la... 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.

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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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