Mice homozygous for the Pitx2^egl1 R115L point substitution on this C57BL/6J background provide a fully penetrant model for early-onset glaucoma, developing elevated intraocular pressure by five weeks of age, which subsequently becomes more severe. The size of the eye is similar to that of controls until 13 weeks of age when the eyes are larger. Image guided optical coherence tomography at three months of age shows enlargement of the anterior chamber and optic cupping, which presents as a ring-like feature around the optic nerve head by indirect ophthalmoscopy. Histology at 3 months of age shows optic head cupping, anterior synechia and a complete loss of the inner retinal layers. Functionally, at three months of age the rod a-wave is normal but there is a loss of rod b-waves and lower cone electroretinogram response. This ENU-induced mutation was mapped between D3Mit106 and D3Mit291 and found to be a single G to T transversion in Pitx2 exon 2 that changes amino acid 115 from arginine to leucine.

Development

C57BL/6J males were treated with N-ethyl-N-nitrosourea and bred to C57BL/6J females and their male offspring were backcrossed to C57BL/6J females and their offspring were then backcrossed to their father to generate a population of mutants segregating for the recessive mutations of that N1 male. In that population a mouse was identified that had a shortened face and enlarged eyes. This mutant was backcrossed again to C57BL/6J and the shortened face phenotype bred away from the ocular phenotype, which was then maintained by sibling intercrossing to homozygosity. This strain reached sibling generation F32 in 2018.

Control Suggestions

000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Selected References

Chang B; Wang J; Fitzmaurice B; Nishima P. 2017. A new mouse model of early-onset glaucoma Invest Ophthalmol Vis Sci 58(8):2125MGI: J:269565

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Genetics

Pitx2^egl1

Allele Symbol: Pitx2^egl1

Allele Name	early-onset glaucoma 1
Allele Type	Chemically induced (ENU) (Not Specified)
Allele Synonym(s)
Gene Symbol and Name	Pitx2, paired-like homeodomain transcription factor 2
Gene Synonym(s)
Strain of Origin	C57BL/6J
Chromosome	3
Molecular Note	This ENU-induced G to T transversion at position 344 in exon 2 is predicted to cause the arginine at amino acid 115 to become a leucine.

Disease/Phenotype

Disease Terms

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

glaucoma

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Sensorineural Research
- Eye Defects
  - hereditary glaucoma
- Retinal Degeneration

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Pitx2^egl1/Pitx2^egl1
C57BL/6J-Pitx2/Boc

nervous system phenotype

optic nerve cupping
- By 3 months of age this is evident histologically and by indirect ophthalmoscopy this presents as a ring-like feature around the optic nerve head

vision/eye phenotype

ocular hypertension
- progressive elevated intraocular pressure found in all homozygotes by 5 weeks of age

anterior iris synechia
- by 3 months of age

enlarged eye anterior chamber
- evident by 3 months of age by histology and image guided optical coherence tomography

abnormal cone electrophysiology

abnormal eye electrophysiology
- at 3 months of age ERG recordings show a normal rod a-wave but decreased rod b-waves and lower cone ERG response

abnormal iris pigmentation
- iris pigment loss by 3 months of age

corneal opacity

macrophthalmia
- by 13 weeks of age

abnormal retinal layer morphology

decreased total retina thickness
- complete loss of the inner retinal layers and thinning of the retina evident at 3 months of age

optic nerve cupping
- By 3 months of age this is evident histologically and by indirect ophthalmoscopy this presents as a ring-like feature around the optic nerve head

abnormal rod electrophysiology

decreased b-wave amplitude

pigmentation phenotype

abnormal iris pigmentation
- iris pigment loss by 3 months of age

References

Chang B; Wang J; Fitzmaurice B; Nishima P. 2017. A new mouse model of early-onset glaucoma Invest Ophthalmol Vis Sci 58(8):2125MGI: J:269565

Additional - Pitx2^egl1 related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
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Mating System
- Homozygote x Homozygote
Citation
When using the early-onset glaucoma 1 mouse strain in a publication, please cite the originating article(s) and include JAX stock #004240 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MGL277 (Low)

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Also Known As:early-onset glaucoma 1

Genetic overview

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