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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(Kera-PITX2*A)BHjal
transgene insertion B, Tord Hjalt
MGI:3851245
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
tg1
Tg(Kera-PITX2*A)BHjal/0 involves: C57BL/6 * CBA MGI:3851250


Genotype
MGI:3851250
tg1
Allelic
Composition
Tg(Kera-PITX2*A)BHjal/0
Genetic
Background
involves: C57BL/6 * CBA
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
vision/eye
• iris is hypertrophic at 5 days
• iris in central and peripheral parts adheres to the cornea
• corneas are hypertrophic to varying degrees at 5 days; corneal mesenchyme is massively hypertrophic and involuted toward hypertrophic iris
• at 1 month, corneal mesenchyme and epithelium are hypertrophic
• collagen superstructure is disrupted
• fibroblast cells are relaxed and expanded making contact with adjacent fibroblasts
• at 5 days, corneal mesenchyme and epithelium are hypertrophic; at 1 month, epithelium is 5-fold thinner than wild-type
• eyes of 1-month old animals are opaque and tearing to varying degrees
• corneas are clouded and grainy, occluding light transmission

limbs/digits/tail
N
• hindlimbs do not show abnormal phenotype
• mice show an abnormal forelimb phenotype (J:93634)
• phenotype occurs randomly on either left or right limb, although occasionally both forelimbs are affected (J:135637)
• malformation is most prominent distally and partly distorts olecranon fossa; elbow is locked in simultaneous pronation-extension along with 180 degree twist of paw making limb insufficient for support (J:135637)
• biceps brachii of forelimb has misplaced insertion; in controls, muscle inserts at proximal part of radius, but in mutants, distal tendon of biceps brachii is curled around radius and inserts dorsally at most distal part of radius (J:135637)
• abnormal muscle insertion results in limited elbow motion and permanent pronation of forelimb (J:135637)
• humerus is shortened, thickened and malformed in affected animals in newborns
• at E18.5, distal thickening of the humerus is apparent, partly dislocating the radius anteriorly and to slightly dislocate the proximal ulna to more lateral-dorsal position making ulna appear twisted
• however, bone and cartilage zones appear normal at all ages examined
• diminished in affected mice at E18.5
• radius is bent proximally and approaches elbow joint from straight angle in newborns
• proximal ulna is slightly dislocated due to olecranon fossa distortion

skeleton
• humerus is shortened, thickened and malformed in affected animals in newborns
• at E18.5, distal thickening of the humerus is apparent, partly dislocating the radius anteriorly and to slightly dislocate the proximal ulna to more lateral-dorsal position making ulna appear twisted
• however, bone and cartilage zones appear normal at all ages examined
• diminished in affected mice at E18.5
• radius is bent proximally and approaches elbow joint from straight angle in newborns
• proximal ulna is slightly dislocated due to olecranon fossa distortion

Mouse Models of Human Disease
OMIM ID Ref(s)
Axenfeld-Rieger Syndrome, Type 1; RIEG1 180500 J:93634





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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory