Phenotypes Associated with This Genotype

Genotype
MGI:2677317

• Allelic Composition: Pax2^tm1Pgr/Pax2^tm1Pgr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

reproductive system

absent seminal vesicle ( J:30343 )

♂ • at E17.5, male homozygotes lack seminal vesicles

abnormal testis morphology ( J:30343 )

♂

absent oviduct ( J:30343 )

♀ • at E17.5, female homozygotes lack oviducts

absent uterine horn ( J:30343 )

♀ • at E17.5, female homozygotes lack uterine horns

absent vagina ( J:30343 )

♀ • at E17.5, female homozygotes lack a vagina

absent efferent ductules of testis ( J:30343 )

♂ • at E17.5, male homozygotes lack efferent ducts of the testis

absent epididymis ( J:30343 )

♂ • at E17.5, male homozygotes lack an epididymis

absent vas deferens ( J:30343 )

♂ • at E17.5, male homozygotes lack a vas deferens

renal/urinary system

abnormal kidney development ( J:30343 )

abnormal mesonephric mesenchyme morphology ( J:30343 )

• mesenchyme of the nephrogenic cord fails to undergo epithelial transformation and is unable to form mesonephric tubules

abnormal metanephric mesenchyme morphology ( J:30343 )

• metanephric induction fails as ureter buds are absent

absent metanephros ( J:30343 )

• metanephric development does not occur

absent kidney ( J:30343 )

• at E17.5, homozygotes invariably lack both kidneys

absent ureter ( J:30343 )

• at E17.5, homozygotes invariably lack both ureters

• both sexes lack the entire genital tracts

absent ureteric bud ( J:30343 )

• homozygotes fail to develop ureteric buds

endocrine/exocrine glands

absent seminal vesicle ( J:30343 )

♂ • at E17.5, male homozygotes lack seminal vesicles

abnormal testis morphology ( J:30343 )

♂

embryo

abnormal intermediate mesoderm morphology ( J:30343 )

• homozygotes exhibit impaired differentiation of intermediate mesoderm-derived structures; as a result, kidneys, ureters, and genital tracts fail to form

• in contrast, endoderm-derived structures, such as the bladder, urethra and prostate gland appear normal

abnormal mesonephros morphology ( J:30343 )

• at E12.5, homozygotes fail to develop mesonephric tubules, indicating impaired epithelial transition into the nephrogenic cord

Mullerian duct degeneration ( J:30343 )

• by E16.5, the parts of Mullerian ducts initially formed have degenerated and are contained within the remnant of urogenital ridges flanking the gonads

rudimentary Mullerian ducts ( J:30343 )

• at E13.5, mutant Mullerian ducts are only present at the uppermost parts of the genital ridge, whereas wild-type ducts are found along the entire length of the genital ridge and have reached the cloaca

Wolffian duct degeneration ( J:30343 )

• by E12.5, the parts of Wolffian ducts initially formed are degenerating (or absent) and contained within the remnant of urogenital ridges flanking the gonads

rudimentary Wolffian ducts ( J:30343 )

• at E10.5, mutant Wolffian ducts fail to reach the cloaca

• at E11.5, mutant Wolffian ducts do not extend beyond somite 25

abnormal neural tube closure ( J:36834 )

incomplete rostral neuropore closure ( J:36834 )

• at E9.0, mutant cephalic folds fail to fuse at the midbrain region

nervous system

abnormal axon extension ( J:36834 )

• homozygotes show abnormal axonal pathways along the optic stalks and ventral diencephalon

abnormal neural tube closure ( J:36834 )

incomplete rostral neuropore closure ( J:36834 )

• at E9.0, mutant cephalic folds fail to fuse at the midbrain region

abnormal brain morphology ( J:36834 )

• homozygotes show gross alteration in midbrain and anterior hindbrain morphology

abnormal optic tract morphology ( J:36834 )

• optic tracts remain totally ipsilateral due to agenesis of the optic chiasma; no contralateral projections are observed

abnormal diencephalon morphology ( J:36834 )

• homozygotes display an abnormal basis of diencephalon, where no optic chiasma is observed

exencephaly ( J:36834 )

• at E11.5, homozygotes display exencephaly from the anterior hindbrain to the posterior forebrain

• the extesion of exencephaly is only slightly variable among individuals and is not genotype-dependent

• when present, exencephaly is of similar severity in homozygous and heterozygous mutant mice

absent cochlear ganglion ( J:36834 )

• at E17, the spiral ganglion is entirely absent

abnormal optic nerve morphology ( J:36834 )

• at E17, the optic nerve is abnormally coated by pigmented cells and glial cells are absent

• the mutant optic nerve consists of a single bundle of axons and is of reduced diameter, probably due to absence of cell bodies bewteen axons

abnormal optic nerve innervation ( J:36834 )

• mutant optic fibers project exclusively to the ipsilateral side without reaching the midline at the optic recess at the base of the diencephalon

• as a result, the insertion of the optic nerve occurs more laterally than in wild-type mice

absent optic chiasm ( J:36834 )

• agenesis of the optic chiasma

absent cochlear nerve ( J:36834 )

• at E13.5, the cochlear root of the vestibulocochlear nerve is absent

vision/eye

abnormal optic nerve morphology ( J:36834 )

• at E17, the optic nerve is abnormally coated by pigmented cells and glial cells are absent

• the mutant optic nerve consists of a single bundle of axons and is of reduced diameter, probably due to absence of cell bodies bewteen axons

abnormal optic nerve innervation ( J:36834 )

• mutant optic fibers project exclusively to the ipsilateral side without reaching the midline at the optic recess at the base of the diencephalon

• as a result, the insertion of the optic nerve occurs more laterally than in wild-type mice

absent optic chiasm ( J:36834 )

• agenesis of the optic chiasma

abnormal retina pigmentation ( J:36834 )

• at E17, pigmentation of the outer retina cells abnormally extends into the optic stalk region and thus surrounds the optic nerve

• Background Sensitivity: the extent of pigmentation into the optic stalk is background-dependent, ranging from 50% to practically all of the stalk extension up to the diencephalon

abnormal eye development ( J:36834 )

abnormal optic fissure closure ( J:36834 )

• at E13, the converging neuroepithelial lips of the prospective retina seem to contact each other, but the basal lamina persists precluding the closure of optic fissure

• despite an open optic fissure, both retinal layers appear normal at birth with respect to cell type composition

abnormal optic stalk morphology ( J:36834 )

• optic stalk cells fail to differentiate into glial cells of the optic nerve

• the pigmented cell phenotype extends into the optic stalk region and surrounds the optic nerve

• Background Sensitivity: the extent of pigmentation into the optic stalk is background-dependent, ranging from 50% to practically all of the stalk extension up to the diencephalon

coloboma ( J:36834 )

• homozygotes fail to close the optic fissure and display complete bilateral coloboma at birth

pigmentation

abnormal retina pigmentation ( J:36834 )

• at E17, pigmentation of the outer retina cells abnormally extends into the optic stalk region and thus surrounds the optic nerve

• Background Sensitivity: the extent of pigmentation into the optic stalk is background-dependent, ranging from 50% to practically all of the stalk extension up to the diencephalon

hearing/vestibular/ear

absent organ of Corti ( J:36834 )

• at E17, none of the cell types of the organ of Corti are identified

short scala media ( J:36834 )

• at E13.5, the cochlear duct fails to elongate from the ventral portion of the otic vesicle and remains amorphic

absent cochlea ( J:36834 , J:92326 )

• at E17, the cochlea is entirely agenic and remains as a ball-shaped simple epithelium (J:36834)

• in contrast, vestibular and saccular structures develop rather normally (J:36834)

• Background Sensitivity: the cochlear phenotype is more severe on a 129/Sv genetic background (cochlear agenesis) than on a mixed 129/Sv x C57BL/6 background (rudimentary cochlea) (J:92326)

cellular

abnormal axon extension ( J:36834 )

• homozygotes show abnormal axonal pathways along the optic stalks and ventral diencephalon

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
renal coloboma syndrome		DOID:0090006	OMIM:120330	J:36834