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Symbol
Name
ID
Spink5
serine peptidase inhibitor, Kazal type 5
MGI:1919682
Phenotype annotations related to integument
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Sparse scalp hair
Sparse eyebrow
Sparse eyelashes
Angioedema
Urticaria
Eczematoid dermatitis
Erythroderma
Recurrent skin infections
Skin rash
Abnormal hair morphology
Trichorrhexis nodosa
Brittle hair
Brittle scalp hair
Fine hair
Irregular hyperpigmentation
Dry skin
Acanthosis nigricans
Ichthyosis
Congenital nonbullous ichthyosiform erythroderma
Parakeratosis
Disease(s) Associated with SPINK5
Netherton syndrome

Mouse Phenotypes
integument phenotype
impaired skin barrier function
abnormal hair shaft morphology
abnormal hair follicle morphology
abnormal vibrissa follicle morphology
abnormal vibrissa morphology
sparse vibrissae
abnormal epidermal layer morphology
abnormal epidermis stratum corneum morphology
abnormal corneocyte envelope morphology
hyperkeratosis
parakeratosis
abnormal epidermis stratum granulosum morphology
acanthosis
epidermal desquamation
blistering
flaky skin
reddish skin
scaly skin
skin lesions
decreased skin tensile strength
Availability Mouse Genotype
Spink5m1Btlr/Spink5m1Btlr
Spink5tm1Drh/Spink5tm1Drh
Spink5tm1Hov/Spink5tm1Hov
Spink5Tn(Pgk2-sb10,sb-Tyr)1498Ove/Spink5Tn(Pgk2-sb10,sb-Tyr)1498Ove *

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory