Phenotypes Associated with This Genotype

Genotype
MGI:6461562

• Allelic Composition: Prss56^em2(IMPC)J/Prss56^em2(IMPC)J
• Genetic Background: C57BL/6NJ-Prss56^em2(IMPC)J/Mmjax

Data Sources

IMPC Data for Prss56

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

behavior/neurological

abnormal vocalization ( J:211773 )

IMPC - JAX

integument

abnormal coat/hair pigmentation ( J:211773 )

IMPC - JAX

pigmentation

abnormal coat/hair pigmentation ( J:211773 )

IMPC - JAX

vision/eye

abnormal eye morphology ( J:364267 )

decreased cornea curvature ( J:364267 )

abnormal eye posterior chamber depth ( J:364267 )

• shorter

posterior microphthalmia ( J:364267 )

• Relative to C57BL/6J controls, homozygotes develop a smaller posterior eye and shorter posterior chamber depth leading to a shorter axial length, despite a slightly longer anterior chamber depth, and the corneal radius of curvature is decreased. the axial length is slightly shorter even than that of Mfrp homozygotes.

increased total retina thickness ( J:364267 )

retina fold ( J:364267 )

hypermetropia ( J:364267 )

• the refractive error was found to be increased at 10 weeks of age, shifting toward hyperopia to a greater degree than that caused by the glcr4 allele

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
isolated microphthalmia 6		DOID:0060835	OMIM:613517	J:364267
nanophthalmos		DOID:0080634	OMIM:600165 OMIM:609549 OMIM:611897 OMIM:615972 OMIM:PS600165	J:364267