About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:6741540
Allelic
Composition
Bbs5tm1a(EUCOMM)Wtsi/Bbs5tm1a(EUCOMM)Wtsi
Genetic
Background
C57BL/6-Bbs5tm1a(EUCOMM)Wtsi
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bbs5tm1a(EUCOMM)Wtsi mutation (3 available); any Bbs5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice show increased mortality by weaning (P21), however normal numbers are seen at E18.5 to birth

growth/size/body
• surviving mice catch up in weight over time and surpass wild-type mice and become obese
• perinatal mice appear smaller; growth retardation occurs during the first 3 weeks

skeleton
• 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
• mice develop shortened craniofacial bones postnatally; phenotypes are not seen at E18.5
• persistence of the buccohypophyseal canal in the basisphenoid bone at the base of the skull at E18.5 and in adults
• shorter skull length (from tip of the nasal bone to the back of the skull)
• decrease in length of long bones

craniofacial
• mice develop shortened craniofacial bones postnatally; phenotypes are not seen at E18.5
• persistence of the buccohypophyseal canal in the basisphenoid bone at the base of the skull at E18.5 and in adults
• shorter skull length (from tip of the nasal bone to the back of the skull)

endocrine/exocrine glands
• 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

nervous system
• 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
• adult mice (2-4 months of age) exhibit ventriculomegaly with an increase in the volume of the lateral ventricles
• overall volume of the cortex is reduced
• overall volume of the olfactory bulb is reduced

reproductive system
• testes and epididymis show no flagellated sperm
• no litters are produced when either the male or female are homozygous for the mutant allele

cellular
• testes and epididymis show no flagellated sperm

renal/urinary system
N
• mice do not show any kidney phenotypes

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

embryo
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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory