Phenotypes associated with this allele

• Allele Symbol: Dgat2^tm1Far
• Allele Name: targeted mutation 1, Bob Farese
• Allele ID: MGI:3037903
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dgat2^tm1Far/Dgat2^tm1Far	involves: 129S4/SvJae * C57BL/6J	MGI:3037948

Genotype
MGI:3037948

hm1

• Allelic Composition: Dgat2^tm1Far/Dgat2^tm1Far
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

Small size, shiny skin and necrotic tail of Dgat2^tm1Far/Dgat2^tm1Far mice

mortality/aging

neonatal lethality, complete penetrance ( J:88742 )

• mice die 2 to 24 hours after birth, putatively due to inadequate substrates for energy metabolism and impaired permeability barrier function in the skin

• subcutaneous injections of glucose at birth prolongs life for only a few hours

• subcutaneous injections of saline combined with increasing the ambient humidity from 50 to 85% prolongs life for several hours

cellular

tail necrosis ( J:88742 )

• necrosis of the tail develops in mutants that survive for 8-24 hours

growth/size/body

decreased birth weight ( J:88742 )

• newborns weigh 20% less than wild-type

decreased body size ( J:88742 )

• reduced size persists after birth

weight loss ( J:88742 )

• newborns rapidly lose weight due to increased permeability of skin and consequent fluid loss

decreased body length ( J:88742 )

• mutants are 15% shorter than wild-type

decreased fetal weight ( J:88742 )

• 14% reduction in body weight at E18.5

• however, body weight at E12.5 is similar to wild-type

liver/biliary system

decreased liver glycogen level ( J:88742 )

• after birth, hepatic glycogen levels decrease and are 67% lower than in wild-type

decreased liver triglyceride level ( J:88742 )

• triglyceride content is nearly undetectable in fetal and newborn livers

homeostasis/metabolism

hypoglycemia ( J:88742 )

• 70-90% lower in newborns

• plasma glucose levels are reduced by 68% in E18.5 mutants

decreased body surface temperature ( J:88742 )

• lower surface body temperature

dehydration ( J:88742 )

impaired skin barrier function ( J:88742 )

• skin barrier abnormalities, resulting in dehydration from increased epidermal permeability

decreased liver glycogen level ( J:88742 )

• after birth, hepatic glycogen levels decrease and are 67% lower than in wild-type

abnormal lipid level ( J:88742 )

• reduction in neutral lipid content in the liver and BAT

• content of the skin lipid acylceramide is reduced by more than 60%

decreased fatty acids level ( J:88742 )

• all fatty acid classes are reduced by more than 95% in livers

• free fatty acid levels are reduced in total carcass and in liver

decreased circulating free fatty acids level ( J:88742 )

• 70-90% lower in newborns

decreased unsaturated fatty acids level ( J:88742 )

• content of linoleic acid in free fatty acids in both liver and plasma is reduced 77 and 85%, respectively, and by 60% in cholesterol esters in the liver

• however, phospholipids of livers have similar levels of linoleic acid as wild-type

• reduction in the linoleic acid content of triglycerides and free fatty acids in the skin

abnormal phospholipid level ( J:88742 )

• neonatal skin shows a moderate reduction in phosphatidylcholine

decreased triglyceride level ( J:88742 )

• 86% reduction in tissue triglycerides at E12.5

• 93% and 60% reduction in total carcass and BAT triglyceride content, respectively

• lipids of neonatal skin show a 96% reduction in triglyceride content

decreased circulating triglyceride level ( J:88742 )

• 70-90% lower in newborns

decreased liver triglyceride level ( J:88742 )

• triglyceride content is nearly undetectable in fetal and newborn livers

limbs/digits/tail

tail necrosis ( J:88742 )

• necrosis of the tail develops in mutants that survive for 8-24 hours

behavior/neurological

abnormal suckling behavior ( J:88742 )

• mutants rarely suckle

integument

impaired skin barrier function ( J:88742 )

• skin barrier abnormalities, resulting in dehydration from increased epidermal permeability

abnormal epidermal layer morphology ( J:88742 )

• effacement of the epidermal rete ridges/papillary projections, leading to a flattened dermo-epidermal interface

orthokeratosis ( J:88742 )

• compact orthohyperkeratosis of affected stratum corneum

abnormal epidermal lamellar body morphology ( J:88742 )

• the epidermis has reduced numbers of lamellar membranes in the stratum corneum extracellular spaces

• individual lamellar bodies often lack normal contents

thin epidermis ( J:88742 )

dry skin ( J:88742 )

• within a few hours after birth, skin appears dry and cracked

shiny skin ( J:88742 )

tight skin ( J:88742 )

• skin lacks elasticity