Phenotypes associated with this allele

• Allele Symbol: Fbn1^em1Chop
• Allele Name: endonuclease-mediated mutation 1, Atul R Chopra
• Allele ID: MGI:6303799
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Fbn1^em1Chop/Fbn1^+	C57BL/6-Fbn1^em1Chop	MGI:6400541

Genotype
MGI:6400541

ht1

• Allelic Composition: Fbn1^em1Chop/Fbn1⁺
• Genetic Background: C57BL/6-Fbn1^em1Chop

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

growth/size/body

decreased body fat mass ( J:251851 )

abnormal postnatal growth/weight/body size ( J:251851 )

• mice show extreme leanness

decreased lean body mass ( J:251851 )

decreased body weight ( J:251851 )

• decrease in body weight already at weaning

decreased susceptibility to diet-induced obesity ( J:251851 )

• mice fed a high-fat diet are protected from obesity and diabetes

adipose tissue

decreased body fat mass ( J:251851 )

behavior/neurological

decreased food intake ( J:251851 )

• hypophagia

homeostasis/metabolism

decreased susceptibility to diet-induced obesity ( J:251851 )

• mice fed a high-fat diet are protected from obesity and diabetes

decreased circulating leptin level ( J:251851 )

• decrease in leptin levels in mice fed normal chow or a high-fat diet

decreased energy expenditure ( J:251851 )

• mice show a reduction in energy expenditure

• however, reduction in energy expenditure normalizes after feeding a high-fat diet

• however, no difference in respiratory exchange ratio is seen and heart rate, blood pressure, body temperature, and thyroid hormone axis are unaffected

nervous system

abnormal neuron physiology ( J:251851 )

• activity of agouti-related neuropeptide (AgRP+) neurons in the arcuate nucleus of the hypothalamus is lower as indicated by decreased firing frequency and resting membrane potential

• an overnight fast has no effect on activity of AgRP+ neurons compared to wild-type neurons which show increased activity

• ghrelin shows a decreased ability to activate AgRP+ neurons

• paraventricular nucleus of the hypothalamus (PVH) neurons show increased firing rate and resting membrane potential