Phenotypes Associated with This Genotype

Genotype
MGI:5605728

• Allelic Composition: Hdac1^tm1.1Eno/Hdac1^tm1.1Eno; Tg(KRT14-cre)1Ipc/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

craniofacial

abnormal periorbital region morphology ( J:205733 )

• periorbital area shows normal eyelashes but pelage hair numbers are reduced and hair pattern is disrupted

growth/size/body

abnormal periorbital region morphology ( J:205733 )

• periorbital area shows normal eyelashes but pelage hair numbers are reduced and hair pattern is disrupted

epithelioid cyst ( J:205733 )

• epithelial cyst-like structures on the dorsal skin of adults

decreased body size ( J:205733 )

• at 6 months of age

integument

abnormal sebaceous gland morphology ( J:205733 )

• lipid-retaining cells are increased in sebaceous glands

Meibomian gland hyperplasia ( J:205733 )

• Meibomian glands are hyperplastic

epithelioid cyst ( J:205733 )

• epithelial cyst-like structures on the dorsal skin of adults

abnormal coat appearance ( J:205733 )

• characteristic hair types are replaced by abnormally pigmented, shorter, thinner hairs with misshaped and twisted medulla structures

alopecia ( J:205733 )

• extensive alopecia on the dorsal skin of adults

• alopecia appears during the first hair cycle and does not progress to open lesions, ulcers, or scarring

short hair ( J:205733 )

abnormal hair shaft morphology ( J:205733 )

• ingrown hair fibers

abnormal hair medulla ( J:205733 )

• hair medulla is abnormal with misaligned air cells

abnormal zigzag hair morphology ( J:205733 )

• affected follicles of mutants have only one hair type that resembles abnormal zigzag hair

abnormal nail morphology ( J:205733 )

• paws exhibit supernumerary claws that form on the lateral sides of digits

• claw dystrophies include unique outgrowths of the hyponychium that extends beyond the claw matrix

• supernumerary claw matrices are covered with compact keratin structures extending from the proximal claw fold

abnormal nail color ( J:205733 )

• pigmentation is increased in the claws

• hyperpigmentation is due to the presence of ectopic pigmented melanocytes in the dermal-epidermal junction in the claw matrix

abnormal nail matrix morphology ( J:205733 )

• presence of ectopic pigmented melanocytes in the dermal-epidermal junction in the claw matrix

abnormal hair follicle morphology ( J:205733 )

• hair follicle dystrophy on the dorsal skin of adults; prevalence is similar at 3 and 6 months of age

• skin and hair appear normal at P9, however dystrophic hair follicle cysts begin to form by 3 weeks of age and become prevalent by 3 months

• dystrophic follicle cysts form from hair follicle progenitor cells that fail to differentiate properly

• coiled hair follicles

• lipid-retaining cells are increased in tail hair follicles

abnormal hair follicle development ( J:205733 )

• dystrophic follicle cysts form from hair follicle progenitor cells that fail to differentiate properly

dilated hair follicle infundibulum ( J:205733 )

• dilated infundibulae on the dorsal skin of adults

• enlarged infundibula of dystrophic follicles sometimes contains keratin arranged in columns resembling a hair shaft and others that contain keratin with less structure

abnormal hair follicle orientation ( J:205733 )

• hair follicle orientation is abnormal, with fibers pointing towards the dermis instead of the epithelium

distorted hair follicle pattern ( J:205733 )

• disrupted hair follicle alignment

abnormal vibrissa morphology ( J:205733 )

• vibrissa hair fiber thickness and length are reduced

short vibrissae ( J:205733 )

abnormal epidermal layer morphology ( J:205733 )

• interfollicular epithelium is hyperpigmented

abnormal epidermis stratum basale morphology ( J:205733 )

• apoptosis is increased in the epidermal basal layer of the interfollicular skin at 6 months of age

hyperkeratosis ( J:205733 )

• hyperkeratosis is seen at 6 months of age

• foot skin epithelium is hyperkeratotic

thin epidermis stratum granulosum ( J:205733 )

• dystrophic follicular epithelium is often stratified without a significant granular layer

abnormal keratinocyte morphology ( J:205733 )

• keratinocytes in all layers are variable in cell size and shape

abnormal keratinocyte differentiation ( J:205733 )

• marker analysis indicates that hair differentiation is disrupted in KRT14-producing keratinocytes, however epidermal differentiation is maintained but control of homeostasis is disrupted

epidermal hyperplasia ( J:205733 )

• moderate epidermal hyperplasia is seen at 6 months of age

• hyperplastic epidermis in the tail skin

thick epidermis ( J:205733 )

increased foot pad pigmentation ( J:205733 )

• pigmentation is increased in the foot pads and feet

increased tail pigmentation ( J:205733 )

• tail skin shows a nonautonomous increase of pigment cells

• increase in number of melanoblasts in the interscale region of the tail

cellular

abnormal keratinocyte differentiation ( J:205733 )

• marker analysis indicates that hair differentiation is disrupted in KRT14-producing keratinocytes, however epidermal differentiation is maintained but control of homeostasis is disrupted

endocrine/exocrine glands

abnormal sebaceous gland morphology ( J:205733 )

• lipid-retaining cells are increased in sebaceous glands

Meibomian gland hyperplasia ( J:205733 )

• Meibomian glands are hyperplastic

limbs/digits/tail

increased foot pad pigmentation ( J:205733 )

• pigmentation is increased in the foot pads and feet

abnormal tail morphology ( J:205733 )

• the tail skin exhibits hyperkeratosis, hyperpigmentation, a reduction in normal hair, and an increase of lipid retaining cells

increased tail pigmentation ( J:205733 )

• tail skin shows a nonautonomous increase of pigment cells

• increase in number of melanoblasts in the interscale region of the tail

pigmentation

increased foot pad pigmentation ( J:205733 )

• pigmentation is increased in the foot pads and feet

increased tail pigmentation ( J:205733 )

• tail skin shows a nonautonomous increase of pigment cells

• increase in number of melanoblasts in the interscale region of the tail

ectopic melanocytes ( J:205733 )

• hyperpigmentation is due to the presence of ectopic pigmented melanocytes in the dermal-epidermal junction in the claw matrix

vision/eye

abnormal eyelid morphology ( J:205733 )

• enlarged eyelids

Meibomian gland hyperplasia ( J:205733 )

• Meibomian glands are hyperplastic

narrow eye opening ( J:205733 )