Phenotypes Associated with This Genotype

Genotype
MGI:3620065

• Allelic Composition: Neil1^tm1Rsld/Neil1^tm1Rsld
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

Neil1^tm1Rsld/Neil1^tm1Rsld and wild-type mouse comparison

growth/size/body

obese ( J:106077 )

• males, and to a lesser extent females, develop obesity at around 6-10 months of age

• although sublines at Oregon Health & Science University and University of Texas Medical branch exhibit severe obesity, one breeding pair of homozygotes raised at New York University appears normal, even at 1 year of age

enlarged liver ( J:106077 )

adipose tissue

increased total body fat amount ( J:106077 )

• obese mice contain massive deposition of fat within the subcutis, retroperitoneum, mediastinum, and abdomen, with nearly complete encasement of most internal organs

abnormal adipose tissue distribution ( J:106077 )

• sporadically observe reduced subcutaneous fat only in the colony at Oregon Health & Science University

homeostasis/metabolism

increased circulating insulin level ( J:106077 )

♂ • seen in 1 year old obese males but not in females

increased circulating leptin level ( J:106077 )

• by 6 months of age, all males exhibit hyperleptinemia

• females at 1 year of age, display approximately 2.5-fold increase in leptin levels

increased circulating triglyceride level ( J:106077 )

• triglyceride levels are 1.4- and 1.3-fold elevated at 3 months and 1.7- and 1.4-fold elevated at 7 months of age in males and females, respectively

liver/biliary system

abnormal liver morphology ( J:106077 )

♂ • males display significantly increased levels of mitochondrial DNA damage and deletions in liver tissue

enlarged liver ( J:106077 )

hepatic steatosis ( J:106077 )

• males exhibit marked hepatic steatosis with more than 50% of cellular contents being a mixture of micro- and macrovesicular globules, however do not observe inflammation or fibrosis

• steatosis is most prominent in the centrilobular regions

• females exhibit a much less severe steatosis than males

pale liver ( J:106077 )

• pale yellow-colored liver

renal/urinary system

abnormal proximal convoluted tubule morphology ( J:106077 )

• males, and to a lesser extent females, display cytoplasmic vacuolization of tubule cells causing distension in many epithelial cells of the proximal convoluted tubules

immune system

joint inflammation ( J:106077 )

• sporadically seen only in the colony at Oregon Health & Science University

reproductive system

infertility ( J:106077 )

• sporadically seen only in the colony at Oregon Health & Science University

skeleton

joint inflammation ( J:106077 )

• sporadically seen only in the colony at Oregon Health & Science University

neoplasm

increased tumor incidence ( J:106077 )

• sporadically observe cancers only in the colony at Oregon Health & Science University

integument

spontaneous skin ulceration ( J:106077 )

• sporadically observe skin ulcerations only in the colony at Oregon Health & Science University

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
abdominal obesity-metabolic syndrome		DOID:0060611	OMIM:PS605552	J:106077