Phenotypes associated with this allele

• Allele Symbol: Gucy1a1^tm1.1Brou
• Allele Name: targeted mutation 1.1, Peter Brouckaert
• Allele ID: MGI:4354143
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gucy1a1^tm1.1Brou/Gucy1a1^tm1.1Brou	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ	MGI:5516430
hm2	Gucy1a1^tm1.1Brou/Gucy1a1^tm1.1Brou	involves: 129S1/Sv * 129X1/SvJ	MGI:3810636
hm3	Gucy1a1^tm1.1Brou/Gucy1a1^tm1.1Brou	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4354155

Genotype
MGI:5516430

hm1

• Allelic Composition: Gucy1a1^tm1.1Brou/Gucy1a1^tm1.1Brou
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ

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

nervous system

decreased retina ganglion cell number ( J:199535 )

♀ • lower number of retinal ganglion cells in old, but not young, females

♀ • however, mutants exhibit normal cornea and anterior segment morphology

abnormal optic nerve morphology ( J:199535 )

♀ • the number of axons in the optic nerve are decreased compared to wild-type mice at 12 months of age

vision/eye

decreased retina ganglion cell number ( J:199535 )

♀ • lower number of retinal ganglion cells in old, but not young, females

♀ • however, mutants exhibit normal cornea and anterior segment morphology

abnormal optic nerve morphology ( J:199535 )

♀ • the number of axons in the optic nerve are decreased compared to wild-type mice at 12 months of age

abnormal aqueous humor ( J:199535 )

♀ • 57 week old mutants exhibit a lower aqueous humor clearance, indicating a decrease in aqueous humor outflow

abnormal retina nerve fiber layer morphology ( J:199535 )

♀ • the retinal nerve fiber layer is thinner in old, but not young, females, indicating a loss of nerve fibers

abnormal eye physiology ( J:199535 )

♀ • retinal arterial diameter decreases less in mutants than in wild-type mice following treatment with an NO-donor compound sodium nitroprusside, indicating that vascular reactivity in the retinal vasculature is abnormal

ocular hypertension ( J:199535 )

♀ • intraocular pressure increases as mutants age from 19 to 37 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary open angle glaucoma		DOID:1070	OMIM:137760	J:199535

Genotype
MGI:3810636

hm2

• Allelic Composition: Gucy1a1^tm1.1Brou/Gucy1a1^tm1.1Brou
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

cardiovascular system

abnormal lung vasculature morphology ( J:139850 )

• a greater proportion of muscularized intra acinar vessels with diameters between 25 and 50 um as compared to controls after 3 weeks of hypoxia

heart right ventricle hypertrophy ( J:139850 )

• increased right ventricular hypertrophy relative to controls after three weeks of hypoxia

abnormal heart right ventricle pressure ( J:139850 )

• right ventricular systolic pressure is normal

• NO administration does not cause a decrease of hypoxia induced rise in right ventricular systolic pressure as it does in controls

• greater hypoxia induced increase in right ventricular systolic pressure after three weeks than seen in controls

increased systemic arterial blood pressure ( J:139850 )

• systemic blood pressure is elevated in awake male mice

respiratory system

abnormal lung vasculature morphology ( J:139850 )

• a greater proportion of muscularized intra acinar vessels with diameters between 25 and 50 um as compared to controls after 3 weeks of hypoxia

growth/size/body

heart right ventricle hypertrophy ( J:139850 )

• increased right ventricular hypertrophy relative to controls after three weeks of hypoxia

muscle

heart right ventricle hypertrophy ( J:139850 )

• increased right ventricular hypertrophy relative to controls after three weeks of hypoxia

Genotype
MGI:4354155

hm3

• Allelic Composition: Gucy1a1^tm1.1Brou/Gucy1a1^tm1.1Brou
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:113106 )

• mutant mice are susceptible to platelet activating factor (PAF)-induced shock and death