Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfap2btm1Rbu mutation
(0 available);
any
Tfap2b mutation
(29 available)
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mortality/aging
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• animals die between 10 and 14 days of birth
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behavior/neurological
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• described as shivering and trembling behavior
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growth/size/body
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• tubular or collecting duct cysts present with variable penetrance
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• animals are significantly smaller by postnatal day 4
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homeostasis/metabolism
limbs/digits/tail
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• additional sixth digit, postaxial hexadactyly
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muscle
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• described as tetanic cramps
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renal/urinary system
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• tubular or collecting duct cysts present with variable penetrance
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• dilated tubules present with variable penetrance
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• tubular function defects, but normal glomerular function
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integument
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• described as dry and scaly
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfap2btm1Rbu mutation
(0 available);
any
Tfap2b mutation
(29 available)
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Postaxial accessory digits in Tfap2btm1Rbu/Tfap2btm1Rbu mice
mortality/aging
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• most pups die within 24 h of birth
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cardiovascular system
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• progressive capillary congestion in newborns
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• in all mice at 2 h and 6 h post birth
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limbs/digits/tail
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• an additional finger-like structure (with a single phalange and no nail) grows out laterally from the 5th finger on the forelimbs of all mice
• extra digits are seen on hindlimbs in only 5% of mice
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respiratory system
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• progressive capillary congestion in newborns
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• disorganized and shrunken alveolar structure that is more severely affected in dying and dead pups
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cellular
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• in all mice at 2 h and 6 h post birth
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfap2btm1Rbu mutation
(0 available);
any
Tfap2b mutation
(29 available)
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mortality/aging
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• more than half of the homozygous neonates died after birth; the remainder died within the first postnatal day
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renal/urinary system
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• widespread apoptosis of collecting duct and distal tubular epithelia was noted at birth
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• widespread apoptosis of distal tubular epithelia was noted at birth
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• kidney cysts seen in the collecting duct system and distal tubuli; cysts are first detectable at E18.5 but do not fully develop until after birth
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cellular
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• widespread apoptosis of collecting duct and distal tubular epithelia was noted at birth
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• widespread apoptosis of distal tubular epithelia was noted at birth
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growth/size/body
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• kidney cysts seen in the collecting duct system and distal tubuli; cysts are first detectable at E18.5 but do not fully develop until after birth
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Allelic
Composition |
Tfap2btm1Rbu/Tfap2b+
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Genetic
Background |
involves: 129S1/Sv * 129X1/SvJ |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tfap2btm1Rbu mutation
(0 available);
any
Tfap2b mutation
(29 available)
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cardiovascular system
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• in 1 of 8 mice at 2 h post birth
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limbs/digits/tail
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• an additional finger-like structure (with a single phalange and no nail) grows out laterally from the 5th finger on the forelimbs of 18.2% of mice
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cellular
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• in 1 of 8 mice at 2 h post birth
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation
(2 available);
any
H2az2 mutation
(26 available)
Tfap2btm1Rbu mutation
(0 available);
any
Tfap2b mutation
(29 available)
Tfap2btm2Will mutation
(0 available);
any
Tfap2b mutation
(29 available)
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vision/eye
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• presence of a severe and fully penetrant closed angle phenotype that develops prior to 2 months of age indicating glaucomatous pathology
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• mice exhibit fewer displaced amacrine cells in the ganglion cell layer at 2 months of age
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• loss of retinal ganglion cells and their axons in 2 month old retina, with loss of axons occurring in a segmental, fan-shaped manner
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• damage of the optic nerve head
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• retinal ganglion cell axon loss is associated with damage of the optic nerve head, indicative of excavation or cupping
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• optic nerves exhibit decreased number of myelinated axons, the presence of degenerating axons and areas of severe atrophy in 2 month old mice
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• areas of severe optic nerve atrophy is seen in 2 month old mice
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• the iridocorneal angle is disrupted with the iris adherent to the cornea, creating a closed angle phenotype
• defects in the angle tissue are present at E18.5
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• the ciliary body is malformed in 2-3 month old mice and is potentially rudimentary as it lacks its normally convoluted and lobulated structure
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• at E15.5, the cornea is less compact, with large gaps within the stroma
• multiple defects of the corneal layers derived from the periocular mesenchyme are seen in 2-3 month old mice, including the lack of a clear endothelial layer and a less cohesive corneal stroma
• corneolenticular adhesion
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• presence of red blood cells in the corneal stroma at E18.5
• marker analysis indicates the presence of blood vessels in the cornea of 2 month old mice, indicating vascularization of the cornea
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• the iris is adherent to the cornea
• adhesion between the cornea and iris detected 360 degrees around the eye
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• lack of a clear endothelial layer in the cornea of 2-3 month old mice
• defects in the corneal endothelium are present at E18.5
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• 2-3 month old mice exhibit reduced stratification of the corneal epithelial layer
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• the corneal epithelial layer is reduced in thickness
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• large gaps within the stroma are seen at E15.5
• the corneal stroma is less cohesive in 2-3 month old mice
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• cornea and lens adhere to one another at E15.5
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• multiple malformations of the anterior chamber are seen in 2-3 month old mice
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• lens epithelium is disorganized and multi-layered in 2-3 month old mice, characteristic of a cataract
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• retinal thickness is decreased in 2-3 month old mice, mainly due to thinning of the inner plexiform layer
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• ocular opacity is seen after eyelid opening that persists as mice age
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• approximate 3-fold elevation of intraocular pressure is seen in 3 month old mice
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cardiovascular system
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• presence of red blood cells in the corneal stroma at E18.5
• marker analysis indicates the presence of blood vessels in the cornea of 2 month old mice, indicating vascularization of the cornea
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nervous system
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• expression of GFAP is upregulated in Muller glia, indicating gliosis
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• mice exhibit fewer displaced amacrine cells in the ganglion cell layer at 2 months of age
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• loss of retinal ganglion cells and their axons in 2 month old retina, with loss of axons occurring in a segmental, fan-shaped manner
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• damage of the optic nerve head
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• retinal ganglion cell axon loss is associated with damage of the optic nerve head, indicative of excavation or cupping
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• optic nerves exhibit decreased number of myelinated axons, the presence of degenerating axons and areas of severe atrophy in 2 month old mice
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• areas of severe optic nerve atrophy is seen in 2 month old mice
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Analysis Tools