Phenotypes Associated with This Genotype

Genotype
MGI:5563481

• Allelic Composition: Bbip1^tm1.1Gne/Bbip1^tm1.1Gne
• Genetic Background: involves: 129 * C57BL/6J * C57BL/6N

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:204140 )

• Background Sensitivity: on a mixed 129 and C57BL/6 background 40% survive to weaning but no mice survive past 24-36 h after birth on a pure C57BL/6 background

growth/size/body

obese ( J:204140 )

behavior/neurological

increased food intake ( J:204140 )

• administration of PYY-36 fails to inhibit food intake in a starvation-refeeding experiment, unlike in wild-type mice

polyphagia ( J:204140 )

• hyperphagia

nervous system

abnormal hypothalamus morphology ( J:204140 )

• defect in neuronal ciliary localization of SSTR3 but not MCHR1 in the hippocampus CA1 region

• absence of NPY2R in arcuate nucleus cilia; however, overall NPY2R expression levels in the hypothalamus are similar to controls

reproductive system

male infertility ( J:204140 )

♂

vision/eye

retina degeneration ( J:204140 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bardet-Biedl syndrome 18		DOID:0110140	OMIM:615995	J:204140