Phenotypes associated with this allele

• Allele Symbol: Lss^{tm1c(KOMP)Wtsi}
• Allele Name: targeted mutation 1c, Wellcome Trust Sanger Institute
• Allele ID: MGI:6423088
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Lss^tm1c(KOMP)Wtsi/Lss^tm1c(KOMP)Wtsi Tg(KRT14-cre)1Amc/0	involves: C57BL/6 * C57BL/6NTac * CBA	MGI:8434059
cn2	Lss^tm1c(KOMP)Wtsi/Lss^tm1c(KOMP)Wtsi Tg(KRT14-cre/ERT)20Efu/0	involves: C57BL/6 * C57BL/6NTac * CD-1 * ICR	MGI:8434068
cn3	Lss^tm1c(KOMP)Wtsi/Lss^tm1c(KOMP)Wtsi Tg(Pax6-GFP/cre)1Rilm/0	involves: C57BL/6 * C57BL/6NTac * FVB/N	MGI:8434074

Genotype
MGI:8434059

cn1

• Allelic Composition: Lss^{tm1c(KOMP)Wtsi}/Lss^{tm1c(KOMP)Wtsi}; Tg(KRT14-cre)1Amc/0
• Genetic Background: involves: C57BL/6 * C57BL/6NTac * CBA

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

mortality/aging

neonatal lethality, complete penetrance ( J:286778 )

• all mice die within a few hours after birth due to dehydration

growth/size/body

weight loss ( J:286778 )

• body weight loss, which is over 10% until 6 hours after birth, is higher than in controls, suggesting severe dehydration immediately after birth

integument

impaired skin barrier function ( J:286778 )

• neonates exhibit outside-in skin barrier dysfunction

• transepidermal water loss is higher, indicating inside-out skin barrier impairment

absent vibrissae ( J:286778 )

• neonates do not have macroscopic whiskers (vibrissae)

abnormal skin morphology ( J:286778 )

• hypomorphic changes in the desmosomes

• however, the number of follicles and the thickness of the epidermis are not different from controls

abnormal epidermal layer morphology ( J:286778 )

• newborns show the presence of (S)-2,3-epoxysqualene in the skin epidermis which is not seen in controls

• however, lanosterol and squalene are undetectable in the epidermis like in controls and cholesterol is not different from controls

homeostasis/metabolism

dehydration ( J:286778 )

• neonates lose over 10% of their weight within 6 hours after birth, suggesting severe dehydration

impaired skin barrier function ( J:286778 )

• neonates exhibit outside-in skin barrier dysfunction

• transepidermal water loss is higher, indicating inside-out skin barrier impairment

abnormal cholesterol homeostasis ( J:286778 )

• newborns show the presence of (S)-2,3-epoxysqualene in the skin epidermis which is not seen in controls

• however, lanosterol and squalene are undetectable in the epidermis like in controls and cholesterol is not different from controls

Genotype
MGI:8434068

cn2

• Allelic Composition: Lss^{tm1c(KOMP)Wtsi}/Lss^{tm1c(KOMP)Wtsi}; Tg(KRT14-cre/ERT)20Efu/0
• Genetic Background: involves: C57BL/6 * C57BL/6NTac * CD-1 * ICR

integument

abnormal outer ear skin morphology ( J:286778 )

• surfaces of the ears or tails of tamoxifen-treated mice are reddish and rough

sebaceous gland hyperplasia ( J:286778 )

abnormal sebaceous gland physiology ( J:286778 )

• ratios of (S)-2,3-epoxysqualene to lanosterol are higher in the sebum of tamoxifen-treated mice

alopecia ( J:286778 )

• 4 weeks after tamoxifen-treatment mice exhibit alopecia from the head to the back that is spontaneously and partially reversed 7 weeks after tamoxifen treatment

• epilation occurs over 3 weeks after intraperitoneal injections of tamoxifen and in the following 1 to 2 weeks, the hair loss area peaks

• fur gradually regrows, but is not completely restored and remains sparse

• mice administered 4-hydroxytamoxifen topically on the skin show transient epilation in treated areas

abnormal hair follicle morphology ( J:286778 )

• tamoxifen-treated mice exhibit hypoplastic hair follicles and thin root sheaths

abnormal epidermal layer morphology ( J:286778 )

• epidermis exhibits liquefaction degeneration

hyperkeratosis ( J:286778 )

parakeratosis ( J:286778 )

acanthosis ( J:286778 )

• epidermis shows severe acanthosis

epidermal hyperplasia ( J:286778 )

craniofacial

abnormal outer ear skin morphology ( J:286778 )

• surfaces of the ears or tails of tamoxifen-treated mice are reddish and rough

endocrine/exocrine glands

sebaceous gland hyperplasia ( J:286778 )

abnormal sebaceous gland physiology ( J:286778 )

• ratios of (S)-2,3-epoxysqualene to lanosterol are higher in the sebum of tamoxifen-treated mice

growth/size/body

abnormal outer ear skin morphology ( J:286778 )

• surfaces of the ears or tails of tamoxifen-treated mice are reddish and rough

hearing/vestibular/ear

abnormal outer ear skin morphology ( J:286778 )

• surfaces of the ears or tails of tamoxifen-treated mice are reddish and rough

limbs/digits/tail

abnormal tail morphology ( J:286778 )

• surface of the tail of tamoxifen-treated mice is reddish and rough

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypotrichosis 14		DOID:0080582	OMIM:618275	J:286778

Genotype
MGI:8434074

cn3

• Allelic Composition: Lss^{tm1c(KOMP)Wtsi}/Lss^{tm1c(KOMP)Wtsi}; Tg(Pax6-GFP/cre)1Rilm/0
• Genetic Background: involves: C57BL/6 * C57BL/6NTac * FVB/N

vision/eye

decreased retina ganglion cell number ( J:286778 )

abnormal lens morphology ( J:286778 )

• lens swelling, lens degeneration, and lens liquefaction

• (S)-2,3-epoxysqualene, lanosterol, squalene, and cholesterol are not detected in the lenses

cataract ( J:286778 )

• small cloudy lenses

microphthalmia ( J:286778 )

thin retina ganglion layer ( J:286778 )

thin retina inner nuclear layer ( J:286778 )

nervous system

decreased retina ganglion cell number ( J:286778 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract 44		DOID:0110267	OMIM:616509	J:286778