Phenotypes Associated with This Genotype

Genotype
MGI:2654259

• Allelic Composition: Mab21l1^tm1Nao/Mab21l1^tm1Nao
• Genetic Background: involves: C57BL/6

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

reproductive system

abnormal male preputial gland morphology ( J:82312 )

♂ • intralumenal spaces in preputial glands are small

small male preputial gland ( J:82312 )

♂ • small reproductive gland

male infertility ( J:82312 )

♂

vision/eye

abnormal anterior eye segment morphology ( J:82312 )

• anterior eye chamber is not formed and the prospective chamber is occupied by pigmented cells

absent ciliary body ( J:82312 )

• absent

aniridia ( J:82312 )

• absent iris

abnormal cornea morphology ( J:82312 )

• the epithelial and mesenchymal cells are not clearly segregated in the cornea

increased cornea thickness ( J:82312 )

• the prospective cornea is thickened at E17

absent lens vesicle ( J:82312 )

• at E10.5, the lens placode fails to invaginate to form a lens vesicle

abnormal optic placode morphology ( J:82312 )

• proliferation of the lens placode is impaired; at the 30-somite stage, number of BrdU labeled cells is reduced in the lens placode and at the 35 somite stage, BrdU-positive cells are rarely seen in the malformed lens placode

• at the 35-somite stage, significantly more TUNEL-positive cells are seen in the lens placode but not at the 32- or 40-somite stages, indicating an increase in apoptosis at this time

aphakia ( J:82312 )

• lens is not seen at E13, E16, and E17 and only a rudimentary lens is present in adults

microphthalmia ( J:82312 )

abnormal retina morphology ( J:82312 )

• malformation of the retina is seen at E13

abnormal retina pigment epithelium morphology ( J:82312 )

• the pigmented epithelium is malformed at E12.5 but not E10.5

thin retina inner nuclear layer ( J:82312 )

thin retina outer nuclear layer ( J:82312 )

increased total retina thickness ( J:82312 )

• retina is thickened at E17

endocrine/exocrine glands

abnormal male preputial gland morphology ( J:82312 )

♂ • intralumenal spaces in preputial glands are small

small male preputial gland ( J:82312 )

♂ • small reproductive gland

renal/urinary system

abnormal male preputial gland morphology ( J:82312 )

♂ • intralumenal spaces in preputial glands are small

small male preputial gland ( J:82312 )

♂ • small reproductive gland

pigmentation

abnormal retina pigment epithelium morphology ( J:82312 )

• the pigmented epithelium is malformed at E12.5 but not E10.5

integument

abnormal male preputial gland morphology ( J:82312 )

♂ • intralumenal spaces in preputial glands are small

small male preputial gland ( J:82312 )

♂ • small reproductive gland