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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(BEST1-HTRA1)#Ybf
transgene insertion, Yingbin Fu
MGI:5285549
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cx1
Htra1tm1Ybf/Htra1tm1Ybf
Tg(BEST1-HTRA1)#Ybf/0
involves: C57BL/6J MGI:5285553
tg2
Tg(BEST1-HTRA1)#Ybf/0 involves: C57BL/6J MGI:5285551


Genotype
MGI:5285553
cx1
Allelic
Composition
Htra1tm1Ybf/Htra1tm1Ybf
Tg(BEST1-HTRA1)#Ybf/0
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Htra1tm1Ybf mutation (0 available); any Htra1 mutation (54 available)
Tg(BEST1-HTRA1)#Ybf mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Similar development of polypoidal choroidal vasculopathy in Htra1tm1Ybf/Htra1tm1Ybf Tg(BEST1-HTRA1)#Ybf/0 mice as in Tg(BEST1-HTRA1)#Ybf/0 mice

vision/eye
• defects resembling polypoidal choroidal vasculopathy (PCV) are seen

cardiovascular system
• small hyperfluorescent dots consistent with microaneurysmal dilations are seen




Genotype
MGI:5285551
tg2
Allelic
Composition
Tg(BEST1-HTRA1)#Ybf/0
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype

Tg(BEST1-HTRA1)#Ybf/0 mice develop polypoidal choroidal vasculopathy

vision/eye
• pools of blood cells are frequently present in the sub-retinal pigment epithelial space apparently from hemorrhagic choroidal vessels
• degenerative changes (disorganized inner and outer segments, vacuolization of inner segments) are seen in PCV+ mice
• degenerative changes (vacuoles, areas with loss of basal infolding, areas of hyper and hypo-pigmentation) are seen in PCV+ mice
• defects resembling polypoidal choroidal vasculopathy (PCV) are seen in 59% of mice starting at 3 - 5 weeks of age
• the severity of the PCV phenotype varies from weak to severe
• large polypoidal lesions (diameter more than 0.45 mm) resembling grape clusters are seen at 3 - 5 weeks of age in some mice
• a network of branching abnormal vessels (i.e., loop or coil-like structures) with terminal dilations is seen at 3 - 5 weeks of age in some mice
• some branching vascular networks and lesions develop new lesions after 2 to 5 months at 11 months of age clusters of dilated, thin-wall vessels are seen some branching vascular networks and lesions develop new lesions after 2 to 5 months
• at 11 months of age clusters of dilated, thin-wall vessels are seen
• at 11 months of age in atrophic regions choroidal arteries completely lack both the elastic interna and elastic externa and the tunica media is severely degenerated or absent
• however, neighboring retinal vessels are normal
• in 50% of mice with PCV over 11 months of age, lesions resembling occult choroidal neovascularization are seen
• the integrity of the elastic lamina is severely compromised with choroidal endothelial processes inserting into the gaps in the elatic lamina in PCV+ mice
• membrane bound basal linear deposits are seen in both the inner and outer collagenous layers

cardiovascular system
• a network of branching abnormal vessels (i.e., loop or coil-like structures) with terminal dilations is seen at 3 - 5 weeks of age in some mice
• some branching vascular networks and lesions develop new lesions after 2 to 5 months at 11 months of age clusters of dilated, thin-wall vessels are seen some branching vascular networks and lesions develop new lesions after 2 to 5 months
• at 11 months of age clusters of dilated, thin-wall vessels are seen
• at 11 months of age in atrophic regions choroidal arteries completely lack both the elastic interna and elastic externa and the tunica media is severely degenerated or absent
• however, neighboring retinal vessels are normal
• in 50% of mice with PCV over 11 months of age, lesions resembling occult choroidal neovascularization are seen
• numerous small hyperfluorescent dots (diameter less than 0.25 mm) consistent with microaneurysmal dilations are seen at 3 - 5 weeks of age in most mice
• pools of blood cells are frequently present in the sub-retinal pigment epithelial space apparently from hemorrhagic choroidal vessels

pigmentation
• degenerative changes (vacuoles, areas with loss of basal infolding, areas of hyper and hypo-pigmentation) are seen in PCV+ mice

nervous system
• degenerative changes (disorganized inner and outer segments, vacuolization of inner segments) are seen in PCV+ mice





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory