Phenotypes Associated with This Genotype

Genotype
MGI:7657832

• Allelic Composition: Kctd1^{tm1c(EUCOMM)Wtsi}/Kctd1^{tm1c(EUCOMM)Wtsi}; Kctd15^{tm1c(EUCOMM)Wtsi}/Kctd15^{tm1c(EUCOMM)Wtsi}; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6N * C57BL/6NJ
• Cell Lines: EPD0177_1_E09

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

growth/size/body

decreased body size ( J:344153 )

• mice are significantly smaller than controls at P7

postnatal growth retardation ( J:344153 )

• mice are born with normal body weight but develop a postnatal growth retardation

integument

small sebaceous gland ( J:344153 )

• tail skin shows markedly reduced sebaceous glands by 8 months of age

• adult footpad skin shows diminished sebaceous glands

decreased eccrine gland number ( J:344153 )

• adult foot pad skin shows strongly reduced eccrine sweat gland numbers

anhidrosis ( J:344153 )

• mice exhibit anhidrosis

abnormal coat/ hair morphology ( J:344153 )

• mice show structural hair abnormalities

delayed hair appearance ( J:344153 )

• mice exhibit a delay in hair growth at P7

sparse hair ( J:344153 )

• at P21, mice have a sparser fur coat and patches with reduced hair on the upper back

• adult mice show a generalized sparseness of the fur coat by 8 months of age

• however, no aplasia cutis congenita (ACC)-like lesions are observed

abnormal hair shaft morphology ( J:344153 )

• at 3 weeks of age, back skin shows structural hair shaft abnormalities

• at 8 months of age, tail skin shows abnormal hairs

abnormal hair follicle morphology ( J:344153 )

• at P4, skin shows abnormal and shorter hair follicles

• at 3 weeks of age, tail skin shows hair follicles with flattened scale/interscale junctions

small hair follicles ( J:344153 )

• at P4, skin shows shorter hair follicles

abnormal vibrissa follicle morphology ( J:344153 )

• mice show abnormal whisker hair follicles

curly vibrissae ( J:344153 )

• at P4 and P13, mice exhibit curly whiskers

thin skin ( J:344153 )

• at P4, skin thickness is significantly reduced relative to controls

abnormal skin development ( J:344153 )

• mice exhibit a delay in skin maturation

limbs/digits/tail

decreased eccrine gland number ( J:344153 )

• adult foot pad skin shows strongly reduced eccrine sweat gland numbers

interdigital webbing ( J:344153 )

• at P4, mice exhibit a delay in interdigital web space formation

vision/eye

delayed eyelid opening ( J:344153 )

• at P13, mice exhibit a delay in eyelid opening

endocrine/exocrine glands

small sebaceous gland ( J:344153 )

• tail skin shows markedly reduced sebaceous glands by 8 months of age

• adult footpad skin shows diminished sebaceous glands

decreased eccrine gland number ( J:344153 )

• adult foot pad skin shows strongly reduced eccrine sweat gland numbers

anhidrosis ( J:344153 )

• mice exhibit anhidrosis

craniofacial

craniofacial phenotype ( J:344153 )

N • mice exhibit normal incisor formation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
scalp-ear-nipple syndrome		DOID:0111550	OMIM:181270	J:344153