Key:
hm homozygous ht heterozygous tg involves transgenes phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Phenotypes:
Affected Systems
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adipose tissue
decreased subcutaneous adipose tissue amount
behavior/neurological
absent gastric milk in neonates
abnormal mechanical nociception
cardiovascular system
abnormal blood vessel morphology
abnormal skin vasculature morphology
abnormal tumor vascularization
abnormal cardiovascular system physiology
cellular
aneuploidy
decreased keratinocyte adhesion
increased hair follicle apoptosis
abnormal keratinocyte differentiation
decreased cell proliferation
decreased keratinocyte proliferation
increased cell proliferation
increased keratinocyte proliferation
abnormal mitochondrial physiology
abnormal redox activity
craniofacial
N N
craniofacial phenotype
N N
abnormal cranium morphology
absent alveolar process
abnormal incisor morphology
abnormal lower incisor morphology
small incisors
abnormal molar morphology
abnormal molar cusp morphology
fused molars
small molars
abnormal enamel organ morphology
abnormal stellate reticulum morphology
abnormal inner dental epithelium morphology
abnormal outer dental epithelium morphology
absent enamel cord
arrest of tooth development
growth retardation of incisors
growth retardation of molars
abnormal dentin morphology
abnormal odontoblast morphology
abnormal enamel morphology
abnormal ameloblast morphology
absent Tomes' process
abnormal nasal bone morphology
abnormal palate development
abnormal primary and secondary palatal fusion
abnormal secondary palate development
abnormal palatal shelf morphology
abnormal palatal shelf fusion at midline
persistence of medial edge epithelium during palatal shelf fusion
palatal shelf hypoplasia
abnormal secondary palate morphology
abnormal hard palate morphology
abnormal soft palate muscle morphology
abnormal tensor veli palatini muscle morphology
cleft secondary palate
submucous cleft palate
anterior cleft palate
abnormal tongue epithelium morphology
increased mouth tumor incidence
digestive/alimentary system
abnormal palate development
abnormal primary and secondary palatal fusion
abnormal secondary palate development
abnormal palatal shelf morphology
abnormal palatal shelf fusion at midline
persistence of medial edge epithelium during palatal shelf fusion
palatal shelf hypoplasia
abnormal secondary palate morphology
abnormal hard palate morphology
abnormal soft palate muscle morphology
abnormal tensor veli palatini muscle morphology
cleft secondary palate
submucous cleft palate
anterior cleft palate
abnormal tongue epithelium morphology
abnormal esophagus morphology
dilated esophagus
aerophagia
endocrine/exocrine glands
endocrine/exocrine gland phenotype
N
abnormal mammary gland development
abnormal mammary gland growth during pregnancy
abnormal mammary gland epithelium morphology
abnormal mammary duct terminal end bud morphology
mammary gland duct hyperplasia
abnormal mammary gland alveolus morphology
mammary gland alveolar hyperplasia
decreased mammary gland tumor incidence
increased mammary gland tumor incidence
increased mammary adenocarcinoma incidence
absent sebaceous gland
small sebaceous gland
decreased eccrine gland number
abnormal lactation
lactation failure
anhidrosis
growth/size/body
absent alveolar process
abnormal incisor morphology
abnormal lower incisor morphology
small incisors
abnormal molar morphology
abnormal molar cusp morphology
fused molars
small molars
abnormal enamel organ morphology
abnormal stellate reticulum morphology
abnormal inner dental epithelium morphology
abnormal outer dental epithelium morphology
absent enamel cord
arrest of tooth development
growth retardation of incisors
growth retardation of molars
abnormal dentin morphology
abnormal odontoblast morphology
abnormal enamel morphology
abnormal ameloblast morphology
absent Tomes' process
abnormal nasal bone morphology
abnormal palate development
abnormal primary and secondary palatal fusion
abnormal secondary palate development
abnormal palatal shelf morphology
abnormal palatal shelf fusion at midline
persistence of medial edge epithelium during palatal shelf fusion
palatal shelf hypoplasia
abnormal secondary palate morphology
abnormal hard palate morphology
abnormal soft palate muscle morphology
abnormal tensor veli palatini muscle morphology
cleft secondary palate
submucous cleft palate
anterior cleft palate
abnormal tongue epithelium morphology
increased mouth tumor incidence
epidermal cyst
decreased body size
decreased body weight
slow postnatal weight gain
postnatal growth retardation
hematopoietic system
decreased erythrocyte cell number
increased granulocyte number
decreased B cell number
increased NK T cell number
homeostasis/metabolism
abnormal circulating chemokine level
increased circulating interleukin-1 alpha level
increased circulating interleukin-17 level
increased circulating interleukin-6 level
increased circulating tumor necrosis factor level
dehydration
skin edema
impaired skin barrier function
increased incidence of tumors by chemical induction
abnormal wound healing
immune system
increased granulocyte number
decreased B cell number
increased NK T cell number
abnormal circulating chemokine level
increased circulating interleukin-1 alpha level
increased circulating interleukin-17 level
increased circulating interleukin-6 level
increased circulating tumor necrosis factor level
enlarged inguinal lymph nodes
abnormal lymphatic vessel morphology
abnormal lymphangiogenesis
lymphatic vessel hyperplasia
increased susceptibility to type IV hypersensitivity reaction
increased interleukin-17 secretion
skin inflammation
dermatitis
erythroderma
increased susceptibility to bacterial infection
integument
N N N N
integument phenotype
N N N N N N N
decreased subcutaneous adipose tissue amount
abnormal mammary gland development
abnormal mammary gland growth during pregnancy
abnormal mammary gland epithelium morphology
abnormal mammary duct terminal end bud morphology
mammary gland duct hyperplasia
abnormal mammary gland alveolus morphology
mammary gland alveolar hyperplasia
decreased mammary gland tumor incidence
increased mammary gland tumor incidence
increased mammary adenocarcinoma incidence
absent sebaceous gland
small sebaceous gland
decreased eccrine gland number
abnormal lactation
lactation failure
anhidrosis
abnormal coat/ hair morphology
abnormal coat appearance
abnormal hair growth
alopecia
delayed hair appearance
hairless
progressive hair loss
sparse hair
waved hair
abnormal hair shaft morphology
abnormal hair follicle morphology
abnormal hair follicle development
underdeveloped hair follicles
abnormal hair follicle orientation
abnormal hair follicle bulge morphology
decreased hair follicle number
small hair follicles
abnormal vibrissa follicle morphology
absent vibrissae
curly vibrissae
abnormal hair cycle anagen phase
abnormal hair cycle catagen phase
abnormal hair follicle physiology
increased hair follicle apoptosis
abnormal skin morphology
abnormal skin vasculature morphology
abnormal epidermal layer morphology
abnormal epidermis stratum basale morphology
thin epidermis stratum basale
abnormal epidermis stratum corneum morphology
abnormal corneocyte envelope morphology
hyperkeratosis
abnormal epidermis stratum granulosum morphology
thin epidermis stratum granulosum
abnormal epidermis stratum spinosum morphology
acantholysis
acanthosis
abnormal keratinocyte morphology
abnormal keratinocyte differentiation
absent epidermis
epidermal hyperplasia
thick epidermis
thin epidermis
abnormal skin appearance
blistering
dry skin
reddish skin
scaly skin
skin lesions
wrinkled skin
abnormal skin pigmentation
abnormal skin condition
epidermal cyst
skin edema
thick skin
thin skin
abnormal skin development
abnormal epidermal stem cell morphology
decreased epidermal stem cell number
increased skin tumor incidence
increased skin squamous cell carcinoma incidence
abnormal skin physiology
impaired skin barrier function
skin inflammation
dermatitis
erythroderma
abnormal keratinocyte physiology
decreased keratinocyte adhesion
decreased keratinocyte proliferation
increased keratinocyte proliferation
decreased skin tensile strength
limbs/digits/tail
decreased eccrine gland number
interdigital webbing
mortality/aging
N N
mortality/aging
N N
decreased survivor rate
premature death
neonatal lethality, complete penetrance
postnatal lethality, complete penetrance
neonatal lethality, incomplete penetrance
postnatal lethality, incomplete penetrance
muscle
abnormal soft palate muscle morphology
abnormal tensor veli palatini muscle morphology
neoplasm
neoplasm
N
increased mouth tumor incidence
decreased mammary gland tumor incidence
increased mammary gland tumor incidence
increased mammary adenocarcinoma incidence
increased incidence of tumors by chemical induction
increased skin tumor incidence
increased skin squamous cell carcinoma incidence
abnormal tumor pathology
abnormal tumor vascularization
decreased metastatic potential
increased metastatic potential
abnormal tumor morphology
decreased tumor latency
nervous system
N
nervous system phenotype
N
abnormal nervous system electrophysiology
pigmentation
N N
pigmentation phenotype
N N
abnormal skin pigmentation
reproductive system
abnormal mammary gland growth during pregnancy
respiratory system
abnormal nasal bone morphology
skeleton
skeleton phenotype
N
abnormal cranium morphology
absent alveolar process
abnormal incisor morphology
abnormal lower incisor morphology
small incisors
abnormal molar morphology
abnormal molar cusp morphology
fused molars
small molars
abnormal enamel organ morphology
abnormal stellate reticulum morphology
abnormal inner dental epithelium morphology
abnormal outer dental epithelium morphology
absent enamel cord
arrest of tooth development
growth retardation of incisors
growth retardation of molars
abnormal dentin morphology
abnormal odontoblast morphology
abnormal enamel morphology
abnormal ameloblast morphology
absent Tomes' process
abnormal nasal bone morphology
vision/eye
vision/eye phenotype
N
abnormal cornea epithelium morphology
decreased cornea epithelium thickness
decreased cornea thickness
delayed eyelid opening
eyelids open at birth