Gene Summary

Name:
endoplasmic reticulum protein 44
Synonyms:
Txndc4,  1110001E24Rik

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
increased bone mineral content Erp44tm1a(KOMP)Wtsi HET Early adult 1.29×10-05
preweaning lethality, incomplete penetrance Erp44tm1a(KOMP)Wtsi HOM   Early adult 0.00
increased lean body mass Erp44tm1a(KOMP)Wtsi HET Early adult 4.17×10-05

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lacZ Expression

Expression data not available

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 Skull Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 105 images

Human diseases caused by Erp44 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 Erp44 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Peeling Skin Syndrome 1
Onycholysis, Short stature, Brittle hair, Erythema, Abnormality of hair texture, Scaling skin OMIM:270300
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Oculotrichodysplasia
Sparse eyelashes, Dry skin, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... OMIM:257960
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Epidermal acanthosis OMIM:615735
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis OMIM:612908
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Sparse eyebrow, Scaling ski... ORPHA:2269
Dowling-Degos Disease 4
Epidermal acanthosis OMIM:615696
Acrokeratosis Verruciformis
Ridged nail, Epidermal acanthosis OMIM:101900
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Short stature ORPHA:90023
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Dry skin, Palmoplantar scaling skin, Erythema, Scaling skin, Concave nail ORPHA:530838
Hypotrichosis Simplex Of The Scalp
Fine hair, Alopecia of scalp, Slow-growing scalp hair, Scaling skin, Sparse scalp hair, Epidermal... ORPHA:90368
Ichthyosis, Congenital, Autosomal Recessive 9
Epidermal acanthosis OMIM:615023
Acral Peeling Skin Syndrome
Scaling skin, Excessive wrinkling of palmar skin, Hyperpigmentation of the skin, Erythema ORPHA:263534
Peeling Skin Syndrome 5
Epidermal acanthosis OMIM:617115
Hairy Elbows
Elbow hypertrichosis, Short stature OMIM:139600
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema OMIM:617571
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Ectodermal Dysplasia/Skin Fragility Syndrome
Scaling skin, Sparse hair, Dystrophic fingernails OMIM:604536
Epidermolytic Hyperkeratosis
Scaling skin, Epidermal acanthosis OMIM:113800
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Epidermal acanthosis, Onycholysis, Leukonychia OMIM:616295
Idiopathic Localized Lipodystrophy
Scaling skin, Hyperpigmentation of the skin, Erythema, Hypopigmentation of the skin ORPHA:90158
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis OMIM:615028
Amyloidosis, Primary Localized Cutaneous, 1
Scaling skin, Dry skin, Cutis laxa OMIM:105250
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Pallor ORPHA:2786
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Peeling Skin Syndrome 4
Scaling skin, Nail dystrophy, Epidermal acanthosis OMIM:607936
Palmoplantar Keratoderma, Nagashima Type
Epidermal acanthosis OMIM:615598
Ectodermal Dysplasia/Short Stature Syndrome
Nail dystrophy, Anonychia, Short stature, Epidermal acanthosis OMIM:616029
Psoriasis 2
Scaling skin, Epidermal acanthosis OMIM:602723
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Cole Disease
Epidermal acanthosis OMIM:615522
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Short stature, Generalized hyperpigmentation ORPHA:1355
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D... ORPHA:3361
Hypotrichosis And Recurrent Skin Vesicles
Epidermal acanthosis, Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse ax... OMIM:613102
Verrucous Hemangioma
Epidermal acanthosis ORPHA:464318
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Epidermal acanthosis OMIM:617526
Centrifugal Lipodystrophy
Scaling skin, Alopecia, Erythema ORPHA:90156
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Bathing Suit Ichthyosis
Nail dystrophy, Alopecia, Scaling skin, Sparse hair, Epidermal acanthosis ORPHA:100976
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Familial Reactive Perforating Collagenosis
Spotty hyperpigmentation, Abnormal epidermal morphology ORPHA:79147
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Epidermal acanthosis OMIM:617525
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin OMIM:612952
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Ichthyosis Vulgaris
Dry skin, Absent keratohyalin granules OMIM:146700
Bazex Syndrome
Lip hyperpigmentation, Yellow nails, Nail dystrophy, Scaling skin ORPHA:166113
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Sparse eyelashes, Absent hair, Ridged nail, Nail dystrophy, Sparse eyebrow, Absent eyebrow, Trich... ORPHA:1010
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Dry skin, Erythema, Scaling skin, Growth delay OMIM:614457
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Dry skin, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Spa... OMIM:190360
Urocanase Deficiency
Blue irides, Short stature, Fair hair OMIM:276880
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:607624
Keratoderma Hereditarium Mutilans With Ichthyosis
Nail dystrophy, Alopecia, Onychogryposis, Scaling skin on fingertip, Epidermal acanthosis ORPHA:79395
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Highly arched eyebrow, Short stature, Sparse eyebrow, Sparse pubic hair, Scaling skin, Dry skin, ... OMIM:618419
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Severe postnatal growth retardation, Short stature, Coarse hair, Sparse eyebrow... ORPHA:35173
Cutaneous Mastocytoma
Scaling skin, Hyperpigmentation of the skin, Erythema, Hypermelanotic macule ORPHA:79455
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Waardenburg Syndrome, Type 2A
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... OMIM:193510
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Dry skin, Epidermal acanthosis OMIM:612281
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Short stature, Nail dystrophy, Alopecia, Absent eyebrow, Absent eyelashes, Nail dysplasia, Scalin... OMIM:308205
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Acantholysis, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and... OMIM:607655
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Poliosis, Short stature, Vitiligo, Abnormal eyebrow morphology, Spars... ORPHA:3437
White Sponge Nevus 2
Epidermal acanthosis OMIM:615785
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... ORPHA:895
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Growth delay, Silver-gray hair OMIM:257800
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Congenital Disorder Of Glycosylation, Type If
Dry skin, Scaling skin OMIM:609180
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Basan Syndrome
Nail dystrophy, Hypermelanotic macule, Epidermal acanthosis OMIM:129200
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... ORPHA:2885
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Psoriasiform lesion ORPHA:284426
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Abnormal hair morphology, Growth delay, Thin nail, Erythema, Alopecia, Epidermal acan... OMIM:242100
Elastosis Perforans Serpiginosa
Cutis laxa, Epidermal acanthosis ORPHA:79148
Acrokeratosis Verruciformis Of Hopf
Nail dystrophy, Anonychia, Epidermal acanthosis, Leukonychia ORPHA:79151
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Short stature, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177910
Elejalde Disease
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:256710
Pemphigus Foliaceus
Scaling skin, Erythema, Acantholysis, Skin vesicle ORPHA:79481
Odontoonychodermal Dysplasia
Fine hair, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse body hair, Erythema, Spar... OMIM:257980
Atrophoderma Vermiculata
Erythema, Abnormal epidermal morphology ORPHA:79100
Huriez Syndrome
Nail dystrophy, Small nail, Epidermal acanthosis OMIM:181600
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dystrophy, Alopecia, Nail dysplasia, Sparse hair, Epidermal acanthosis OMIM:242300
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... ORPHA:33445
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Nail dystrophy, Onycholysis, Epidermal acanthosis OMIM:148700
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis, Epidermal acanthosis OMIM:300918
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:277580
Inflammatory Skin And Bowel Disease, Neonatal, 2
Long eyelashes, Epidermal acanthosis OMIM:616069
Neonatal Inflammatory Skin And Bowel Disease
Chronic monilial nail infection, Erythema, Horizontal eyebrow, Slow-growing scalp hair, Onychogry... ORPHA:294023
Mal De Meleda
Erythema, Epidermal acanthosis ORPHA:87503
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Epidermal acanthosis ORPHA:2199
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... ORPHA:897
Diffuse Cutaneous Mastocytosis
Scaling skin, Mixed hypo- and hyperpigmentation of the skin ORPHA:79456
Infantile Digital Fibromatosis
Epidermal acanthosis ORPHA:199267
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyelashes, Alopecia, Thick hair, Dry skin, Sparse hair, Epidermal acanthosis OMIM:607626
Rare Cutaneous Lupus Erythematosus
Nail bed hemorrhage, Alopecia of scalp, Onycholysis, Psoriasiform lesion, Nail dystrophy, Erythem... ORPHA:535
Vulvovaginal Gingival Syndrome
Ridged nail, Erythema, Epidermal acanthosis ORPHA:83453
Olmsted Syndrome 2
Alopecia universalis, Epidermal acanthosis, Sparse hair, Woolly hair OMIM:619208
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Scaling skin, Alopecia universalis, Patchy alopecia OMIM:606367
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... ORPHA:2884
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Short stature, Irregular hyperpigmentation, Iris hyp... ORPHA:999
Porphyria Cutanea Tarda
Hypertrichosis, Hirsutism, Hyperpigmentation of the skin, Hypopigmentation of the skin, Scaling skin ORPHA:101330
Chronic Actinic Dermatitis
Hypopigmented skin patches, Progressive hyperpigmentation, Epidermal acanthosis ORPHA:330064
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... ORPHA:79435
Mpdu1-Cdg
Scaling skin ORPHA:79323
Piebald Trait
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... OMIM:172800
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis OMIM:615022
Kid Syndrome
Trichilemmoma, Sparse eyelashes, Nail dystrophy, Sparse eyebrow, Scarring alopecia of scalp, Post... ORPHA:477
Immunodeficiency 58
Scaling skin, Short stature, Psoriasiform lesion OMIM:618131
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... ORPHA:894
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Ectodermal Dysplasia-Skin Fragility Syndrome
Short stature, Nail dystrophy, Scaling skin, Alopecia universalis, Sparse hair ORPHA:158668
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis OMIM:133200
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Growth delay, Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Growth delay, Hypopigmentation of the skin, Red hair ORPHA:71526
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Psoriasiform lesion ORPHA:169154
Proteus Syndrome
Epidermal acanthosis, Depigmentation/hyperpigmentation of skin OMIM:176920
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis OMIM:148600
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
Ichthyosis Prematurity Syndrome
Hyperpigmentation of the skin, Alopecia of scalp, Epidermal acanthosis OMIM:608649
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Melanonychia, Abnormal hair morphology, Skin ulcer, Severe s... ORPHA:2526
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Skin vesicle ORPHA:2841
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Intrauterine growth retardation, Mild short stature, Fair hair, Red hair OMIM:614613
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Autosomal Recessive Spastic Paraplegia Type 23
Short stature, Multiple lentigines, Vitiligo, Silver-gray hair ORPHA:101003
Classic Phenylketonuria
Hypopigmentation of hair, Lack of skin elasticity, Growth delay, Hypopigmentation of the skin ORPHA:79254
Hoyeraal-Hreidarsson Syndrome
Intrauterine growth retardation, Generalized hyperpigmentation, Short stature, Excessive wrinkled... ORPHA:3322
Ataxia-Telangiectasia
Short stature, Multiple cafe-au-lait spots, Hypopigmentation of hair, Delayed puberty, Premature ... ORPHA:100
Griscelli Syndrome Type 2
Partial albinism, Petechiae, Iris hypopigmentation, Hypopigmentation of hair, Premature graying o... ORPHA:79477
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Epidermal acanthosis OMIM:613943
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... ORPHA:79432
Immunodeficiency, Common Variable, 8, With Autoimmunity
Growth delay, Vitiligo, Psoriasiform lesion OMIM:614700
Riddle Syndrome
Scaling skin, Erythema, Short stature ORPHA:420741
Bacterial Toxic-Shock Syndrome
Ecchymosis, Scaling skin ORPHA:36234
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... ORPHA:352731
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... ORPHA:79434
Naxos Disease
Acantholysis, Onycholysis, Nail dystrophy, Curly hair, Woolly hair, Sparse and thin eyebrow, Spar... OMIM:601214
Graft Versus Host Disease
Scaling skin ORPHA:39812
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Woodhouse-Sakati Syndrome
Growth delay, Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow, Delayed puberty ORPHA:3464
Squalene Synthase Deficiency
Dry skin, Intrauterine growth retardation, Abnormality of hair pigmentation OMIM:618156
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411515
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Psoriasis 14, Pustular
Nail dystrophy, Erythema, Epidermal acanthosis OMIM:614204
Brittle Cornea Syndrome 1
Disproportionate tall stature, Palmoplantar cutis laxa, Red hair OMIM:229200
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Alopecia totalis, Absent fingernail, Alopecia universalis, Anonychia OMIM:609638
Restrictive Dermopathy
Aplasia/Hypoplastia of the eccrine sweat glands, Short nail, Intrauterine growth retardation, Spa... ORPHA:1662
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... ORPHA:79431
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... OMIM:203100
Carney Complex, Type 1
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair OMIM:160980
Palmoplantar Carcinoma, Multiple Self-Healing
Nail dystrophy, Epidermal acanthosis OMIM:615225
Waardenburg Syndrome
Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Hetero... ORPHA:3440
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dry skin, Hirsutism, Cutis laxa, Thoracic hypertrichosis, Erythema, Long eyelashes, Horizontal ey... OMIM:619503
Rat-Bite Fever
Scaling skin ORPHA:31205
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Intrauterine growth retardation, Acantholysis, Absent hair, Absent t... ORPHA:158687
Superficial Epidermolytic Ichthyosis
Erythema, Acantholysis ORPHA:455
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Hypohidrotic Ectodermal Dysplasia
Dry skin, Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Irregular h... ORPHA:238468
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W... OMIM:613266
Ichthyosis, Congenital, Autosomal Recessive 5
Epidermal acanthosis OMIM:604777
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Growth delay, Epidermal acanthosis OMIM:617388
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform lesion, Onycholysis, Nail pits ORPHA:85436
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Growth delay, Sparse hair, Acantholysis OMIM:615508
Muenke Syndrome
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule ORPHA:53271
Darier-White Disease
Ridged nail, Subungual hyperkeratotic fragments, Hypermelanotic macule, Acantholysis OMIM:124200
Acrokeratoelastoidosis Of Costa
Epidermal acanthosis ORPHA:38
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris hypopigmentation, Mult... ORPHA:3214
Syndromic Diarrhea
Intrauterine growth retardation, Short stature, Brittle hair, Trichorrhexis nodosa, Uncombable ha... ORPHA:84064
Punctate Palmoplantar Keratoderma Type 1
Nail dystrophy, Abnormal epidermal morphology, Epidermal acanthosis ORPHA:79501
Koolen-De Vries Syndrome
Dry skin, Hypopigmentation of hair, Short stature, Abnormality of hair texture ORPHA:96169
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98795
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411511
Oculocerebral Hypopigmentation Syndrome, Cross Type
Growth delay, Short stature, Ocular albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:2719
Chediak-Higashi Syndrome
Silver-gray hair, Ocular albinism, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigme... OMIM:214500
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Short stature, Coarse hair, Widow's peak, Hypopigmentation of hair ORPHA:1974
Prader-Willi Syndrome
Short stature, Hypopigmentation of the skin, Delayed puberty, Iris hypopigmentation, Hypopigmenta... OMIM:176270
Vici Syndrome
Growth delay, Ocular albinism, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:242840
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98794
Pseudoxanthoma Elasticum
Civatte bodies, Cutis laxa OMIM:264800
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Short stature, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Del... ORPHA:98754
Menkes Disease
Sparse hair, Intrauterine growth retardation, Woolly hair, Dry skin, Hypopigmentation of hair ORPHA:565
Hermansky-Pudlak Syndrome
Partial albinism, Ocular albinism, Long eyelashes, Hypopigmentation of the skin, Melanocytic nevu... ORPHA:79430
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Short stature, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Del... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Short stature, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Del... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Short stature, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Del... ORPHA:177901
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Epidermal acanthosis OMIM:612852
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Short stature, Hypopigmentation of the skin ORPHA:398069
Prader-Willi Syndrome Due To Translocation
Intrauterine growth retardation, Short stature, Stellate iris, Hyperpigmentation of the skin, Hyp... ORPHA:177907
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Hypopigmentation o... ORPHA:163746
Prader-Willi-Like Syndrome
Short stature, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Del... ORPHA:398073
Prader-Willi Syndrome
Hypopigmentation of hair, Short stature, Hypopigmentation of the skin ORPHA:739
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Acrodysostosis With Multiple Hormone Resistance
Blue irides, Intrauterine growth retardation, Mild short stature, Fair hair, Red hair ORPHA:280651
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Degcags Syndrome
Hypertrichosis, Intrauterine growth retardation, Low anterior hairline, Abnormality of skin pigme... OMIM:619488
Ch├ędiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Iris... ORPHA:167
Cystinosis, Nephropathic
Growth delay, Short stature, Retinal pigment epithelial mottling, Hypopigmentation of the skin, P... OMIM:219800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Intrauterine growth retardation, Coarse hair, Postnatal growth retardation, Epidermal acanthosis ORPHA:83617
Smith-Lemli-Opitz Syndrome
Intrauterine growth retardation, Growth delay, Short stature, Rhizomelia, Hypopigmentation of hai... ORPHA:818

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 Erp44

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 Erp44.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Erp44tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Erp44tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Erp44tm1a(KOMP)Wtsi