Phenotypes associated with this allele

• Allele Symbol: Cyp7a1^tm1Rus
• Allele Name: targeted mutation 1, David W Russell
• Allele ID: MGI:1857285
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cyp7a1^tm1Rus/Cyp7a1^tm1Rus	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3694477

Genotype
MGI:3694477

hm1

• Allelic Composition: Cyp7a1^tm1Rus/Cyp7a1^tm1Rus
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

Oily coat phenotype of Cyp7a1^tm1Rus/Cyp7a1^tm1Rus nursing mothers and pups

mortality/aging

perinatal lethality, incomplete penetrance ( J:34342 )

• homozygotes born in expected numbers

• high rate of mortality when mothers fed a normal diet

postnatal lethality, incomplete penetrance ( J:34342 )

• without dietary supplementation, 85% die within the first 18 days postnatally

• perinatal lethality extends through day 4 and results in 40% mortality

• further mortality occurs after age 11 days and results in a total postnatal lethality of 85%

• supplementation with vitamins and cholic acid begun at E12 results in normal survival

growth/size/body

decreased birth weight ( J:34342 )

• pups noticably smaller than normal when maternal diet has not been supplemented

postnatal growth retardation ( J:34342 )

• slow growth to 5 days then very little growth to day 11 when maternal diet is not supplemented

homeostasis/metabolism

abnormal lipid homeostasis ( J:34870 )

• secretion of a mixture of monoglyeride esters causes oil coat of nursing females and oily skin of nursing pups

steatorrhea ( J:34342 )

• pups produce fatty stools

decreased intestinal cholesterol absorption ( J:114411 )

• nearly absent

abnormal bile salt homeostasis ( J:34342 )

• cholic acid supplementation of maternal diet has no affect on early deaths but prevents later ones

abnormal bile salt level ( J:34870 )

• reduced levels of bile acids in stools

abnormal fat-soluble vitamin level ( J:34342 , J:34870 )

• supplementation with vitamins and cholic acid begun at E12 results in normal survival (J:34342)

• vitamins in water reduces early wave of deaths but has no affect on later deaths (J:34342)

• supplementation begun at birth still results in 60% mortality before age 14 days (J:34342)

• reduced tissue levels of vitamins D3 and E, improved to varying degrees by vitamin and cholic acid supplementation (J:34870)

digestive/alimentary system

steatorrhea ( J:34342 )

• pups produce fatty stools

decreased intestinal cholesterol absorption ( J:114411 )

• nearly absent

vision/eye

delayed eyelid opening ( J:34342 )

• eyelid openning 8-9 days later than normal

• excessive secretions from between the lids

abnormal vision ( J:34342 )

• reduced exploratory behavior after openning of eyelids suggestive of reduced vision

behavior/neurological

decreased exploration in new environment ( J:34342 )

decreased locomotor activity ( J:34342 )

• reduced exploratory behavior after opening of eyelids suggestive of reduced vision

liver/biliary system

abnormal liver morphology ( J:34342 )

• yellow crystalline deposits in the liver

abnormal bile composition ( J:34870 )

• reduced cholic acid in bile relative to controls while some other bile acids are elevated

abnormal liver physiology ( J:34342 )

• increased conjugated bilirubin

integument

greasy coat ( J:34342 )

• nursing homozygous (and heterozygous) mothers develop a very oily coat which lasts for a minimum of 7 and up to 14 days

abnormal skin morphology ( J:34342 )

thin dermal layer ( J:34342 )

• compressed

abnormal epidermis stratum basale morphology ( J:34342 )

• compressed

hyperkeratosis ( J:34342 )

• cornified layer of the epidermis is thickened

abnormal epidermis stratum granulosum morphology ( J:34342 )

• thickened

thin epidermis stratum spinosum ( J:34342 )

• compressed

dry skin ( J:34342 )

• on 5 day pups

flaky skin ( J:34342 )

• on 5 day pups

oily skin ( J:34342 )

• nursing pups develop an oily skin and usually die

• skin becomes "normal" after 7 days

abnormal skin condition ( J:34342 )