Mice that are homozygous for the targeted mutation are viable, fertile, and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by Western blot analysis of brain extracts from homozygotes. The Donating Investigator reports that homozygous mice are smaller than wild-type littermates until they are six months of age. 30% of homozygotes are born with one or both eyes open. Homozygotes exhibit microthalmia, absent vitreous body, abnormal undulating retinal layers, deformed lenses with adhered ciliary epithelia and lack ciliary processes. At E16.5, the eyelids of homozygotes are not fused and the apex-apex junction of the pigmented and non-pigmented cell layers of the ciliary epithelia are separated. The number of puncta adherentia junctions at the synapses between mossy fibers and CA3 pyramidal cell dendrites is decreased.  Mossy fiber projection through the hippocampus is abnormal. Homozygotes have abnormally long hippocampal infrapyramidal bundle, IPB. The Donating Investigator reports that they have experienced some difficulty obtaining homozygous females from matings of fully backcrossed (N10) mutant mice on the C57BL/6 background. This mutant mouse strain may be useful in studies of eye development, mossy fiber trajectory in neurodevelopment and herpes simplex virus (HSV) infection.

Mice that are homozygous for this targeted mutation exhibit microthalmia, abnormal eye morphology, reduced number of puncta adherentia junctions at the synapses between mossy fibers and CA3 pyramidal cell dendrites, and misprojection of mossy fibers. This mutant mouse strain may be useful in studies of eye development, mossy fiber trajectory in neurodevelopment and herpes simplex virus (HSV) infection.

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