Phenotypes Associated with This Genotype

Genotype
MGI:7435338

• Allelic Composition: Lztfl1^tm1.3Zpl/Lztfl1^tm1.3Zpl
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * C57BL/6N

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

growth/size/body

malocclusion ( J:287261 )

• partial penetrance

decreased birth body size ( J:287261 )

• mice are smaller at birth, but catch up in bodyweight around 6-8 weeks of age

obese ( J:287261 )

• mice become obese after 6-8 weeks of age

• full penetrance of obesity

decreased body length ( J:287261 )

behavior/neurological

increased food intake ( J:287261 )

♂ • mice show an increase in food intake

♂ • however, energy expenditure is similar to wild-type mice

cellular

decreased embryonic cilium length ( J:287261 )

• mouse embryonic fibroblasts (MEFS) from E12.5 embryos show longer cilia than wild-type MEFs

craniofacial

malocclusion ( J:287261 )

• partial penetrance

embryo

decreased embryonic cilium length ( J:287261 )

• mouse embryonic fibroblasts (MEFS) from E12.5 embryos show longer cilia than wild-type MEFs

endocrine/exocrine glands

abnormal interlobular bile duct morphology ( J:287261 )

• mice show enlarged interlobular ducts

abnormal pancreas morphology ( J:287261 )

• pancreatic hypertrophy with enlarged islets and interlobular ducts

pancreatic islet hyperplasia ( J:287261 )

• mice show enlarged islets

adipose tissue

increased total body fat amount ( J:287261 )

• weight gain is due to the higher levels of fat

increased fat cell size ( J:287261 )

• adipocyte hypertrophy

homeostasis/metabolism

increased circulating glucose level ( J:287261 )

♂ • 3-month old obese males show elevated baseline glucose levels

increased circulating leptin level ( J:287261 )

• pre-obese (8 weeks of age) and obese (4 months of age) mice show an increase in leptin at both fed and fast conditions

impaired glucose tolerance ( J:287261 )

♂ • oral glucose tolerance in obese 3-month old males shows elevated baseline glucose level and delayed clearance of oral glucose

♂ • however, oral glucose tolerance testing in pre-obese 8-week old males shows no differences from wild-type mice

insulin resistance ( J:287261 )

• mice show decreased insulin sensitivity in the insulin tolerance test

• insulin tolerance testing in pre-obese 8-week old males shows no differences from wild-type mice

liver/biliary system

abnormal interlobular bile duct morphology ( J:287261 )

• mice show enlarged interlobular ducts

hepatic steatosis ( J:287261 )

• livers exhibit extensive microvesicular and macrovesicular steatosis

nervous system

photoreceptor outer segment degeneration ( J:287261 )

• 3-month old mice exhibit degeneration of the outer segment of the retina

retina photoreceptor degeneration ( J:287261 )

• 3-month old mice show loss of photoreceptors

renal/urinary system

renal/urinary system phenotype ( J:287261 )

N • mice do not develop renal cysts

reproductive system

vagina atresia ( J:287261 )

• partial penetrance

skeleton

malocclusion ( J:287261 )

• partial penetrance

vision/eye

photoreceptor outer segment degeneration ( J:287261 )

• 3-month old mice exhibit degeneration of the outer segment of the retina

retina photoreceptor degeneration ( J:287261 )

• 3-month old mice show loss of photoreceptors

retina degeneration ( J:287261 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bardet-Biedl syndrome 17		DOID:0110139	OMIM:615994	J:287261