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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Bbs4Gt1Nk
gene trap 1, Nicholas Katsanis
MGI:3055492
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Bbs4Gt1Nk/Bbs4Gt1Nk involves: 129S7/SvEvBrd MGI:3608977
hm2
Bbs4Gt1Nk/Bbs4Gt1Nk involves: 129S7/SvEvBrd * C57BL/6J MGI:3055585


Genotype
MGI:3608977
hm1
Allelic
Composition
Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bbs4Gt1Nk mutation (1 available); any Bbs4 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• reduced production of homozygotes in heterozygote matings (J:134093)
• about 10% of all pups die neonatally with 50% of these being homozygotes (J:134093)
• normal ratio of genotypes at E18.5 (J:134093)
• no obvious abnormalities in embryos or dead neonates (J:134093)
• reduced production of homozygotes in heterozygote matings (J:134093)
• about 10% of all pups die neonatally with 50% of these being homozygotes (J:134093)
• normal ratio of genotypes at E18.5 (J:134093)
• no obvious abnormalities in embryos or dead neonates (J:134093)

hearing/vestibular/ear
• some outer hair cell stereociliary hair bundles are misoriented or have a flattened shape (J:102697)
• some outer hair cell stereociliary hair bundles are misoriented or have a flattened shape (J:102697)

growth/size/body
• both sexes tend to become obese with age (J:134093)
• females tend to be significantly overweight by 13 weeks of age (J:134093)
• males tend to become significantly overweight by 24 weeks (J:134093)
• 92% of females and 40% of males become obese (J:134093)
• females show a greater divergence from normal weight than do males (J:134093)
• weight increase due to increased fat and fluids rather than lean mass (J:134093)
• both sexes tend to become obese with age (J:134093)
• females tend to be significantly overweight by 13 weeks of age (J:134093)
• males tend to become significantly overweight by 24 weeks (J:134093)
• 92% of females and 40% of males become obese (J:134093)
• females show a greater divergence from normal weight than do males (J:134093)
• weight increase due to increased fat and fluids rather than lean mass (J:134093)
• statistically smaller than litter mates at 2 weeks of age (J:134093)
• statistically smaller than litter mates at 2 weeks of age (J:134093)
• females remain underweight until about 10 weeks (J:134093)
• males remain underweight until 12 weeks of age (J:134093)
• females remain underweight until about 10 weeks (J:134093)
• males remain underweight until 12 weeks of age (J:134093)

adipose tissue
• increased abdominal fat (J:134093)
• increased abdominal fat (J:134093)

liver/biliary system
• in males (J:134093)
• in males (J:134093)
• fat accumulation in the livers of obese mice (J:134093)
• fat accumulation in the livers of obese mice (J:134093)

homeostasis/metabolism
• elevated total and insoluble bilirubin in males (J:134093)
• elevated total and insoluble bilirubin in males (J:134093)
• increased ratio of total cholesterol to HDL cholesterol (J:134093)
• positive correlation between between body weight and HDL-cholesterol (J:134093)
• increased ratio of total cholesterol to HDL cholesterol (J:134093)
• positive correlation between between body weight and HDL-cholesterol (J:134093)
• elevated levels of alanine aminotransferase and aspartate aminotransferase (J:134093)
• increased alkaline phosphatase in females only (J:134093)
• increased creatine kinase (J:134093)
• elevated levels of alanine aminotransferase and aspartate aminotransferase (J:134093)
• increased alkaline phosphatase in females only (J:134093)
• increased creatine kinase (J:134093)

immune system
• increased globulin levels (J:134093)
• increased globulin levels (J:134093)

vision/eye
• granular fundus (J:134093)
• granular fundus (J:134093)
• retinas normal at 4 months but distinctly abnormal at 10 months (J:134093)
• 80% with retinal abnormalities by 11 months (J:134093)
• large atrophic lacunae (J:134093)
• retinas normal at 4 months but distinctly abnormal at 10 months (J:134093)
• 80% with retinal abnormalities by 11 months (J:134093)
• large atrophic lacunae (J:134093)
• vascular attenuation (J:134093)
• vascular attenuation (J:134093)
• confluent pigment migration (J:134093)
• gross pigmentary retinopathy (J:134093)
• confluent pigment migration (J:134093)
• gross pigmentary retinopathy (J:134093)
• thinned (J:134093)
• loss of nuclei (J:134093)
• photoreceptors appear as a single sparse layer of nuclei by 28 weeks of age (J:134093)
• thinned (J:134093)
• loss of nuclei (J:134093)
• photoreceptors appear as a single sparse layer of nuclei by 28 weeks of age (J:134093)
• thinned (J:134093)
• thinned (J:134093)
• thinned (J:134093)
• thinned (J:134093)
• both rod and cone responses show severe deterioration in electroretinography by 4 weeks (J:134093)
• by 8 weeks, a wave is 22% normal and 17% normal at 14 weeks (J:134093)
• at 4 weeks, scotopic b wave is 58% normal, 42% normal at 8 weeks, and 22% normal at 14 weeks (J:134093)
• both rod and cone responses show severe deterioration in electroretinography by 4 weeks (J:134093)
• by 8 weeks, a wave is 22% normal and 17% normal at 14 weeks (J:134093)
• at 4 weeks, scotopic b wave is 58% normal, 42% normal at 8 weeks, and 22% normal at 14 weeks (J:134093)
• 4 week cone function b wave is 12% normal, 7% at 8 weeks and at 14 weeks (J:134093)
• 4 week cone function b wave is 12% normal, 7% at 8 weeks and at 14 weeks (J:134093)

behavior/neurological
• less socially aggressive (J:134093)
• less socially aggressive (J:134093)
• less rearing activity in open field tests (J:134093)
• more time spent in dark box and fewer transitions to light (J:134093)
• less rearing activity in open field tests (J:134093)
• more time spent in dark box and fewer transitions to light (J:134093)

nervous system
• neural tube defects in 14% of embryos result in midbrain exencephaly (J:134093)
• neural tube defects in 14% of embryos result in midbrain exencephaly (J:134093)
• some outer hair cell stereociliary hair bundles are misoriented or have a flattened shape (J:102697)
• some outer hair cell stereociliary hair bundles are misoriented or have a flattened shape (J:102697)
• thinned (J:134093)
• thinned (J:134093)
• thinned (J:134093)
• thinned (J:134093)

reproductive system
• in one of 22 females (J:134093)
• in one of 22 females (J:134093)

cardiovascular system
• vascular attenuation (J:134093)
• vascular attenuation (J:134093)

pigmentation
• confluent pigment migration (J:134093)
• gross pigmentary retinopathy (J:134093)
• confluent pigment migration (J:134093)
• gross pigmentary retinopathy (J:134093)

embryogenesis
• neural tube defects in 14% of embryos result in midbrain exencephaly (J:134093)
• neural tube defects in 14% of embryos result in midbrain exencephaly (J:134093)

renal/urinary system
• cystic structural changes involving primarily the tubules and occasionally the glomeruli are noted at 6 months of age or later (J:134093)
• cystic structural changes involving primarily the tubules and occasionally the glomeruli are noted at 6 months of age or later (J:134093)
• occasional at 6 months of age or later (J:134093)
• occasional at 6 months of age or later (J:134093)

hematopoietic system
• increased globulin levels (J:134093)
• increased globulin levels (J:134093)

Mouse Models of Human Disease
OMIM ID Ref(s)
Bardet-Biedl Syndrome 4; BBS4 615982 J:134093




Genotype
MGI:3055585
hm2
Allelic
Composition
Bbs4Gt1Nk/Bbs4Gt1Nk
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bbs4Gt1Nk mutation (1 available); any Bbs4 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 40-50% embryonic lethality is seen at E10.5 (J:92950)
• 40-50% embryonic lethality is seen at E10.5 (J:92950)

growth/size/body
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type (J:92950)
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type (J:92950)
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice (J:92950)
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice (J:92950)
• all homozygotes are runts at birth, however no mutants display polydactyly, situs inversus, or renal or liver abnormalities unlike humans with BBS mutations (J:92950)
• all homozygotes are runts at birth, however no mutants display polydactyly, situs inversus, or renal or liver abnormalities unlike humans with BBS mutations (J:92950)
• by 10 weeks of age 10% of homozygotes are obese (J:92950)
• by 10 weeks of age 10% of homozygotes are obese (J:92950)

taste/olfaction
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type (J:92950)
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type (J:92950)
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice (J:92950)
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice (J:92950)
• olfactory epithelium shows little of no response to a wide variety of odorants (J:92950)
• olfactory epithelium shows little of no response to a wide variety of odorants (J:92950)

vision/eye
• 30% of homozygotes develop retinal degeneration (J:92950)
• 30% of homozygotes develop retinal degeneration (J:92950)

nervous system
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice (J:92950)
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice (J:92950)

respiratory system
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type (J:92950)
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type (J:92950)
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice (J:92950)
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice (J:92950)

craniofacial
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type (J:92950)
• olfactory cilia lack stable microtubules and the ciliary layer is thinner compared to wild-type (J:92950)
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice (J:92950)
• the apical dendrites are distorted rather than projecting straight to the surface as in wild-type mice (J:92950)

Mouse Models of Human Disease
OMIM ID Ref(s)
Bardet-Biedl Syndrome 4; BBS4 615982 J:92950
Obesity 601665 J:92950





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory