Phenotypes Associated with This Genotype

Genotype
MGI:4868696

• Allelic Composition: Nphp4^nmf192/Nphp4^nmf192
• Genetic Background: involves: C57BL/6J

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

reproductive system

reproductive system phenotype ( J:167232 )

N • female mice are fertile

oligozoospermia ( J:167232 )

♂

asthenozoospermia ( J:167232 )

♂ • without disruption in axoneme structure

male infertility ( J:167232 )

♂

impaired fertilization ( J:167232 )

• sperm fails to induce fertilization in vitro

vision/eye

abnormal retina apoptosis ( J:167232 )

• photoreceptors are lost via apoptosis

abnormal retina morphology ( J:167232 )

• as early as 6 weeks of age, retina are mottled and grainy unlike in wild-type mice

abnormal retina blood vessel morphology ( J:167232 )

• as early as 6 weeks of age, blood vessels are attenuated compared with wild-type mice

abnormal photoreceptor outer segment morphology ( J:167232 )

• the outer segment does not form properly compared to in wild-type mice

• at P12, the rudimentary outer segment is rarely observed and the outer segment fails to elongate compared to in wild-type mice

short photoreceptor outer segment ( J:167232 )

• as early as 2 weeks of age

retina photoreceptor degeneration ( J:167232 )

• progressive and not modulated by environmental light exposure

abnormal retina pigmentation ( J:167232 )

• at 10 weeks of age, mutant retinas exhibit patches of depigmentation compared with wild-type mice, with a partial loss of retinal pigment epithelial (RPE) cells in the depigmented areas

thin retina inner nuclear layer ( J:167232 )

• at P21, secondary to photoreceptor loss

thin retina outer nuclear layer ( J:167232 )

• at P19 and P21

abnormal retina outer plexiform layer morphology ( J:167232 )

• mice exhibit synaptic defects in the outer plexiform layer compared with wild-type mice

• synaptic ribbons rapidly degenerate by P14 unlike in wild-type mice

thin retina outer plexiform layer ( J:167232 )

• at P14 and 4 weeks of age

renal/urinary system

renal/urinary system phenotype ( J:167232 )

N • unlike in human patients with mutations in this gene, mice exhibit normal kidney morphology and physiology

nervous system

abnormal photoreceptor outer segment morphology ( J:167232 )

• the outer segment does not form properly compared to in wild-type mice

• at P12, the rudimentary outer segment is rarely observed and the outer segment fails to elongate compared to in wild-type mice

short photoreceptor outer segment ( J:167232 )

• as early as 2 weeks of age

retina photoreceptor degeneration ( J:167232 )

• progressive and not modulated by environmental light exposure

pigmentation

abnormal retina pigmentation ( J:167232 )

• at 10 weeks of age, mutant retinas exhibit patches of depigmentation compared with wild-type mice, with a partial loss of retinal pigment epithelial (RPE) cells in the depigmented areas

cardiovascular system

abnormal retina blood vessel morphology ( J:167232 )

• as early as 6 weeks of age, blood vessels are attenuated compared with wild-type mice

cellular

oligozoospermia ( J:167232 )

♂

abnormal retina apoptosis ( J:167232 )

• photoreceptors are lost via apoptosis

asthenozoospermia ( J:167232 )

♂ • without disruption in axoneme structure

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nephronophthisis 4		DOID:0111115	OMIM:606966	J:167232