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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mab21l1em1Drf
endonuclease-mediated mutation 1, David R FitzPatrick
MGI:7867729
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mab21l1em1Drf/Mab21l1em1Drf C57BL/6JCrl-Mab21l1em1Drf MGI:7867734
ht2
Mab21l1em1Drf/Mab21l1+ C57BL/6JCrl-Mab21l1em1Drf MGI:7867737


Genotype
MGI:7867734
hm1
Allelic
Composition
Mab21l1em1Drf/Mab21l1em1Drf
Genetic
Background
C57BL/6JCrl-Mab21l1em1Drf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mab21l1em1Drf mutation (0 available); any Mab21l1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• all mice exhibit a severe bilateral panocular eye malformation, including microphthalmia with disorganized anterior and posterior segments
• the most severely affected eyes only have a rudimentary lens and retina and optic nerve aplasia
• disorganization of anterior segments
• abnormalities of the cornea
• disorganization of lens fibers, with hypoplasia or aplasia of the lens
• disorganization of posterior segments
• abnormalities of the optic nerve, with the most severely affected eyes having optic nerve aplasia
• severe disorganization retina, with the most severely affected eyes having a rudimentary retina
• severe disorganization of veal tissue
• hyperplasia of pigmented uveal tissue
• abnormalities of the ciliary body
• abnormalities of the iris

nervous system
• abnormalities of the optic nerve, with the most severely affected eyes having optic nerve aplasia




Genotype
MGI:7867737
ht2
Allelic
Composition
Mab21l1em1Drf/Mab21l1+
Genetic
Background
C57BL/6JCrl-Mab21l1em1Drf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mab21l1em1Drf mutation (0 available); any Mab21l1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• all mice exhibit anomalous, excavated optic discs, with bilateral penetration in 9 of 13 mice
• optic discs are enlarged
• however, intraocular pressure is within the normal range and slit lamp examination of the iris and anterior segment appears normal and mice show no other apparent abnormalities

nervous system
• all mice exhibit anomalous, excavated optic discs, with bilateral penetration in 9 of 13 mice
• optic discs are enlarged
• however, intraocular pressure is within the normal range and slit lamp examination of the iris and anterior segment appears normal and mice show no other apparent abnormalities





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory