Phenotypes Associated with This Genotype

Genotype
MGI:6741540

• Allelic Composition: Bbs5^{tm1a(EUCOMM)Wtsi}/Bbs5^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6-Bbs5^{tm1a(EUCOMM)Wtsi}

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:307098 )

• mice show increased mortality by weaning (P21), however normal numbers are seen at E18.5 to birth

growth/size/body

obese ( J:307098 )

• surviving mice catch up in weight over time and surpass wild-type mice and become obese

postnatal growth retardation ( J:307098 )

• perinatal mice appear smaller; growth retardation occurs during the first 3 weeks

skeleton

abnormal skeleton morphology ( J:307098 )

• surviving mice exhibit skeletal abnormalities, with an overall decrease in skeletal length from the tip of the nasal bone to the pubic symphysis

• however, mice do not exhibit polydactyly

abnormal craniofacial bone morphology ( J:307098 )

• mice develop shortened craniofacial bones postnatally; phenotypes are not seen at E18.5

abnormal basicranium morphology ( J:307098 )

• persistence of the buccohypophyseal canal in the basisphenoid bone at the base of the skull at E18.5 and in adults

decreased cranium length ( J:307098 )

• shorter skull length (from tip of the nasal bone to the back of the skull)

decreased length of long bones ( J:307098 )

• decrease in length of long bones

craniofacial

abnormal craniofacial bone morphology ( J:307098 )

• mice develop shortened craniofacial bones postnatally; phenotypes are not seen at E18.5

abnormal basicranium morphology ( J:307098 )

• persistence of the buccohypophyseal canal in the basisphenoid bone at the base of the skull at E18.5 and in adults

decreased cranium length ( J:307098 )

• shorter skull length (from tip of the nasal bone to the back of the skull)

endocrine/exocrine glands

abnormal pituitary gland morphology ( J:307098 )

• 3 of 5 mice exhibit abnormal pituitary gland morphology with ectopic expansions caudally

• pituitary glands show cellular abnormalities such as irregular boundaries and hyperplastic expansion between the pars intermedia and pars distalis regions

small pituitary gland ( J:307098 )

nervous system

abnormal pituitary gland morphology ( J:307098 )

• 3 of 5 mice exhibit abnormal pituitary gland morphology with ectopic expansions caudally

• pituitary glands show cellular abnormalities such as irregular boundaries and hyperplastic expansion between the pars intermedia and pars distalis regions

small pituitary gland ( J:307098 )

enlarged lateral ventricles ( J:307098 )

• adult mice (2-4 months of age) exhibit ventriculomegaly with an increase in the volume of the lateral ventricles

abnormal cerebral cortex morphology ( J:307098 )

• overall volume of the cortex is reduced

abnormal olfactory bulb morphology ( J:307098 )

• overall volume of the olfactory bulb is reduced

reproductive system

absent sperm flagellum ( J:307098 )

♂ • testes and epididymis show no flagellated sperm

infertility ( J:307098 )

• no litters are produced when either the male or female are homozygous for the mutant allele

cellular

absent sperm flagellum ( J:307098 )

♂ • testes and epididymis show no flagellated sperm

renal/urinary system

renal/urinary system phenotype ( J:307098 )

N • mice do not show any kidney phenotypes

respiratory system

respiratory system phenotype ( J:307098 )

N • lungs show no differences in alveolar space or pulmonary interstitium at E18.5

embryo

embryo phenotype ( J:307098 )

N • neural tube closure defects are not seen during development

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bardet-Biedl syndrome 5		DOID:0110127	OMIM:615983	J:307098