Phenotypes Associated with This Genotype

Genotype
MGI:6295848

• Allelic Composition: Tsc1^tm1Djk/Tsc1^tm1Djk; Tg(Lhx2-cre)1Lcar/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA * NMRI

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

pigmentation

abnormal iris pigment epithelium ( J:239666 )

• the iris pigment epithelium appears irregular and disorganized

vision/eye

abnormal anterior eye segment morphology ( J:239666 )

• Background Sensitivity: severity of anterior segment phenotype is variable, albeit with full penetrance, on a mixed background containing NMRI compared to severe phentoype on a mixed background without NMRI

abnormal ciliary body morphology ( J:239666 )

• ciliary body is hypotrophic, with ciliary processes in some eyes being underdeveloped, whereas other eyes have barely detectable ciliary processes

abnormal ciliary epithelium morphology ( J:239666 )

• mice exhibit a disorganized Pax6+ ciliary epithelia that results in indistinct ciliary processes

abnormal iris morphology ( J:239666 )

• iris exhibits an atrophic sphincter pupillae and size and position of the sphincter pupillae is variable

• the iris appears as a shortened structure completely lacking a dilator pupillae in some animals while normal iris extension is seen in other animals although with dilator pupillae atrophy

abnormal iris pigment epithelium ( J:239666 )

• the iris pigment epithelium appears irregular and disorganized