All Phenotypes Prickle3<em1Mxg> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Prickle3^em1Mxg
endonuclease-mediated mutation 1, Min-Xin Guan
MGI:6502853

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prickle3^em1Mxg/Prickle3^em1Mxg	C57BL/6JSlacc-Prickle3^em1Mxg	MGI:6514801
ht2	Prickle3^em1Mxg/Prickle3⁺	C57BL/6JSlacc-Prickle3^em1Mxg	MGI:6514803
ot3	Prickle3^em1Mxg/Y	C57BL/6JSlacc-Prickle3^em1Mxg	MGI:6514802

Allelic Composition	Prickle3^em1Mxg/Prickle3^em1Mxg
Genetic Background	C57BL/6JSlacc-Prickle3^em1Mxg

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prickle3^em1Mxg mutation (0 available); any Prickle3 mutation (7 available)

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

vision/eye

abnormal retina morphology ( J:300151 )

• reduced neurofilaments in the retina

retina ganglion cell degeneration ( J:300151 )

abnormal cone electrophysiology ( J:300151 )

• reduced b-wave

abnormal rod electrophysiology ( J:300151 )

• reduced b-wave

nervous system

retina ganglion cell degeneration ( J:300151 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber plus disease		DOID:0111754		J:300151

Allelic Composition	Prickle3^em1Mxg/Prickle3⁺
Genetic Background	C57BL/6JSlacc-Prickle3^em1Mxg

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prickle3^em1Mxg mutation (0 available); any Prickle3 mutation (7 available)

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

cellular

abnormal mitochondrial morphology ( J:300151 )

• with vacuolated, fragmented mitochondria and the loss of cristae in the retina

vision/eye

abnormal retina morphology ( J:300151 )

• reduced neurofilaments in the retina

abnormal retina blood vessel morphology ( J:300151 )

increased retina vascular tortuosity ( J:300151 )

abnormal cone electrophysiology ( J:300151 )

• reduced b-wave

abnormal rod electrophysiology ( J:300151 )

• reduced b-wave

nervous system

abnormal retina ganglion cell dendrite morphology ( J:300151 )

• reduced

cardiovascular system

abnormal retina blood vessel morphology ( J:300151 )

increased retina vascular tortuosity ( J:300151 )

Allelic Composition	Prickle3^em1Mxg/Y
Genetic Background	C57BL/6JSlacc-Prickle3^em1Mxg

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prickle3^em1Mxg mutation (0 available); any Prickle3 mutation (7 available)

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

vision/eye

abnormal retina blood vessel morphology ( J:300151 )

• tortuous and dilated with more branches in vessels

increased retina vascular tortuosity ( J:300151 )

retina ganglion cell degeneration ( J:300151 )

abnormal cone electrophysiology ( J:300151 )

• reduced b-wave

abnormal rod electrophysiology ( J:300151 )

• reduced b-wave

nervous system

abnormal retina ganglion cell dendrite morphology ( J:300151 )

retina ganglion cell degeneration ( J:300151 )

cardiovascular system

abnormal retina blood vessel morphology ( J:300151 )

• tortuous and dilated with more branches in vessels

increased retina vascular tortuosity ( J:300151 )

cellular

abnormal mitochondrial morphology ( J:300151 )

• with vacuolated, fragmented mitochondria and the loss of cristae in the retina

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber plus disease		DOID:0111754		J:300151

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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