Phenotypes Associated with This Genotype

Genotype
MGI:3525177

cn4

• Allelic Composition: Psen1^tm2Shn/Psen1^tm2Shn; Psen2^tm1Haa/Psen2^tm1Haa; Tg(Msx2-cre)5Rem/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

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

mortality/aging

premature death ( J:94517 )

• died after weaning, with the longest survivor dying at P30

digestive/alimentary system

esophagus hyperplasia ( J:94517 )

• hyperplasia of the esophagus most likely leading to premature death

endocrine/exocrine glands

absent sebocyte ( J:94517 )

• did not detect mature sebocytes in embryo-deleted hair follicles

growth/size/body

esophagus hyperplasia ( J:94517 )

• hyperplasia of the esophagus most likely leading to premature death

epidermal cyst ( J:94517 )

• by P22, keratinized cysts replaced embryo-deleted hair follicles

decreased body size ( J:94517 )

• smaller than controls by P12

integument

absent sebocyte ( J:94517 )

• did not detect mature sebocytes in embryo-deleted hair follicles

epidermal cyst ( J:94517 )

• by P22, keratinized cysts replaced embryo-deleted hair follicles

abnormal hair growth ( J:94517 )

• mutants had regions with normal hair and naked skin patches that were separated by regions covered with short hairs presumably the result of different timing of Cre expression

focal hair loss ( J:94517 )

• had naked skin patches

short hair ( J:94517 )

• had regions of short hairs

abnormal hair follicle morphology ( J:94517 )

• an epithelial cluster formed an unusual flat boundary with the dermal papilla in P0 embryo-deleted mutant follicles

• at P4, the upper part of embryo-deleted follicles contained loosely packed cells with enlarged cytoplasm and small nuclei and at P8, these loosely packed cells extended farther down to the matrix

abnormal hair follicle inner root sheath morphology ( J:94517 )

• inner root sheath cells fail to accumulate by P7 but the outer root sheath was normal at P8

hair follicle degeneration ( J:94517 )

• all cell layers of embryo-deleted follicles except the outer root sheath and the Dermal Papilla appeared to have collapsed around the melanin-containing core at P8

• At P12 and P15, degenerating embryo-deleted follicles lost contact with their Dermal Papilla and the outer root sheath began to proliferate, stratify, and keratinize

epidermal hyperplasia ( J:94517 )

• exhibited epidermal hyperproliferation

thick epidermis ( J:94517 )

• embryo-deleted epidermis at P8 was acanthotic and hyperkeratotic

scaly skin ( J:94517 )

• naked skin patches became scaly

thick skin ( J:94517 )

• naked skin patches became thick