What is the function of the PAX6 gene in the mouse eye?

PAX6 is known as an essential transcription factor for overall eye development. Pax6-deficient mouse mutant embryos develop optic vesicles that may be enlarged, but the vesicles do not develop further (Hill et al., 1991; Walther and Gruss, 1991; Grindley et al., 1995).

Where is PAX6 gene expressed?

During embryological development the PAX6 gene, found on chromosome 2 in mice, can be seen expressed in multiple early structures such as the spinal cord, hindbrain, forebrain and eyes.

Is PAX6 necessary for eye development?

Pax6 is a paired-domain and homeodomain-containing transcription factor necessary for normal development of the eye, nose, pancreas, and brain (Walther and Gruss 1991; Schmahl et al.

Is PAX6 a homologous gene?

Pax6 is an ancient gene, homologous at least at the level of Bilateria. Following its origin, Pax6 was co-opted to become involved in the development of a number of different structures in different lineages.

What is the eyeless?

adjective. lacking eyes: eyeless fish that evolved in dark caves. lacking sight; blind.

What does the PAX6 gene affect?

During embryonic development, the PAX6 protein is thought to turn on (activate) genes involved in the formation of the eyes, the brain and spinal cord (central nervous system), and the pancreas.

What kind of gene is PAX6?

PAX6 (Paired Box 6) is a Protein Coding gene. Diseases associated with PAX6 include Coloboma Of Optic Nerve and Optic Nerve Hypoplasia, Bilateral. Among its related pathways are Incretin synthesis, secretion, and inactivation and Nervous system development.

What activates Pax6?

The PAX6 gene is activated by the basic helix-loop-helix transcription factor NeuroD/BETA2.

What is the difference between Pax6 and Pax6?

Pax6 contains a canonical PD. In contrast, Pax6(5a) contains a 14 amino acid insertion within the PAI domain (see Fig. 1A). Pax6 plays critical roles in the organogenesis of the brain, visual, and olfactory systems, as well as peptide hormone gene expression in the pancreas.