Phenotypes associated with this allele

• Allele Symbol: Bbip1^tm1.1Gne
• Allele Name: targeted mutation 1.1, Genentech
• Allele ID: MGI:5563473
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bbip1^tm1.1Gne/Bbip1^tm1.1Gne	involves: 129 * C57BL/6J * C57BL/6N	MGI:5563481
hm2	Bbip1^tm1.1Gne/Bbip1^tm1.1Gne	involves: C57BL/6J * C57BL/6N	MGI:5563477

Genotype
MGI:5563481

hm1

• 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

Genotype
MGI:5563477

hm2

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

mortality/aging

postnatal lethality, complete penetrance ( J:204140 )

• Background Sensitivity: all mice die by 24-36 h after birth on a pure C57BL/6 background but on a mixed 129 and C57BL/6 background 40% survive to weaning