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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Bbs1tm1Vcs
targeted mutation 1, Val C Sheffield
MGI:3767672
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Bbs1tm1Vcs/Bbs1tm1Vcs involves: 129S1/Sv * 129X1/SvJ MGI:3767679


Genotype
MGI:3767679
hm1
Allelic
Composition
Bbs1tm1Vcs/Bbs1tm1Vcs
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bbs1tm1Vcs mutation (2 available); any Bbs1 mutation (43 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Sperm flagella loss and photoreceptor defects in Bbs1tm1Vcs/Bbs1tm1Vcs mice

mortality/aging
N
• unlike Bbs2, Bbs4, or Mkks homozygous null mice, no embryonic or neonatal lethality is seen

reproductive system
• sperm lack flagella

nervous system
N
• motile cilia in the lateral ventricles are normal
• ependymal cell cilia are either abnormally long (20%) or have swollen distal regions containing vesicular aggregates (80%)
• 2-fold in the periventricular region at P3 and P7
• 50% less in the periventricular region at P3 and P7
• neuronal precursor cells are insensitive to PDGF-alpha treatment
• however, lithium therapy rescues increased proliferation
• non-obstructive
• however, lithium therapy rescues hydrocephalus
• ventriculomegaly restricted to the lateral and third cerebral ventricles
• enlargement of the lateral ventricles can be detected by 3 weeks of age and increases with age
• enlargement of the lateral ventricles is more severe than that of the third ventricle
• ventriculomegaly restricted to the lateral and third cerebral ventricles
• enlargement of the lateral ventricles is more severe than that of the third ventricle
• begins between P0 and P3
• reduction in size of the corpus striatum at 3-weeks and 3.5- to 6-months of age
• reduced in size at 3.5- to 6-months of age
• thinning of the caudal half detected at 3.5- to 6-months of age
• significant degeneration is seen at 6 months of age
• severe disruption and disorientation of outer segment membranous discs is seen
• significant degeneration is seen at 6 months of age
• at P21, retinas show protein mislocalization with a striking accumulation of Stx3 and Stxbp1 as well as loss of polarized Prom1 localization in the OS, similar to retinas in Lztfl1tm1e(KOMP)Wtsi homozygotes
• at P45, the lamellar structure of the OS is severely disrupted; abnormal vesicle formation and longitudinally oriented discs are observed similar to those in Lztfl1tm1e(KOMP)Wtsi homozygotes
• at P45, the OS structure is disorganized

vision/eye
• significant degeneration is seen at 6 months of age
• severe disruption and disorientation of outer segment membranous discs is seen
• significant degeneration is seen at 6 months of age
• at P21, retinas show protein mislocalization with a striking accumulation of Stx3 and Stxbp1 as well as loss of polarized Prom1 localization in the OS, similar to retinas in Lztfl1tm1e(KOMP)Wtsi homozygotes
• at P45, the lamellar structure of the OS is severely disrupted; abnormal vesicle formation and longitudinally oriented discs are observed similar to those in Lztfl1tm1e(KOMP)Wtsi homozygotes
• at P45, the OS structure is disorganized
• significant degeneration is seen at 6 months of age
• the c-wave amplitude is significantly reduced although the response is still luminance-graded
• the variance of the photopic b-wave is significantly different compared to controls
• at 11 weeks of age significant attenuation is seen in a- and b-waves at high scotopic luminances
• however, at 11 weeks of age no difference is seen in amplitude or scotopic response at the lowest scotopic luminance

adipose tissue
• significant elevation in fat content at 3.5 and 6 months of age
• increase in the amount of reproductive, perirenal, and omental fat

taste/olfaction
• partial anosmia

behavior/neurological
• display a lack of social dominance

growth/size/body

homeostasis/metabolism

cardiovascular system
• higher heart rates in 3.5- to 6-month old mice
• however, no significant changes in mean arterial pressure or cardiac size are detected

renal/urinary system
N
• unlike humans with Bardet-Biedl syndrome, mice do not develop renal cysts

limbs/digits/tail
N
• unlike humans with Bardet-Biedl syndrome, mice do not display polydactyly

cellular
• ependymal cell cilia are either abnormally long (20%) or have swollen distal regions containing vesicular aggregates (80%)
• sperm lack flagella
• 2-fold in the periventricular region at P3 and P7
• 50% less in the periventricular region at P3 and P7
• neuronal precursor cells are insensitive to PDGF-alpha treatment
• however, lithium therapy rescues increased proliferation

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Bardet-Biedl syndrome 1 DOID:0110123 OMIM:209900
J:128532





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/11/2019
MGI 6.14
The Jackson Laboratory