All Phenotypes Cct2<em1Itwa> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Cct2^em1Itwa
endonuclease-mediated mutation 1, Takeshi Iwata
MGI:7782498

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cct2^em1Itwa/Cct2^em1Itwa	Not Specified	MGI:7782500
ht2	Cct2^em1Itwa/Cct2⁺	involves: C57BL/6J	MGI:7782501
ht3	Cct2^em1Itwa/Cct2^em2Itwa	involves: C57BL/6J	MGI:7782503

Allelic Composition	Cct2^em1Itwa/Cct2^em1Itwa
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cct2^em1Itwa mutation (0 available); any Cct2 mutation (36 available)

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

mortality/aging

prenatal lethality, complete penetrance ( J:358007 )

• no homozygotes are obtained and no homozygotes are detected at E17

Allelic Composition	Cct2^em1Itwa/Cct2⁺
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cct2^em1Itwa mutation (0 available); any Cct2 mutation (36 available)

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

vision/eye

vision/eye phenotype ( J:358007 )

N	• retinal structure is normal and scotopic and photopic responses are normal at 43 weeks of age

Allelic Composition	Cct2^em1Itwa/Cct2^em2Itwa
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cct2^em1Itwa mutation (0 available); any Cct2 mutation (36 available)
Cct2^em2Itwa mutation (0 available); any Cct2 mutation (36 available)

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

vision/eye

abnormal retina cone cell morphology ( J:358007 )

• aberrant cone cell localization in the retina indicating aberrant cone cell lamination

abnormal retina outer nuclear layer morphology ( J:358007 )

• some cone cell bodies are located in the middle of the outer nuclear layer (ONL) and the mean relative cone cell position is slightly, but significantly shorter, suggesting that cone cell migration is affected

• however, outer nuclear layer thickness is normal at P14, counts of cone photoreceptor cell bodies, bipolar cells, amacrine cells, and retinal ganglion cells are normal, and cone pedicle sizes are not different

nervous system

abnormal retina cone cell morphology ( J:358007 )

• aberrant cone cell localization in the retina indicating aberrant cone cell lamination

mortality/aging

postnatal lethality, complete penetrance ( J:358007 )

• mice do not survive longer than P14

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis		DOID:14791	OMIM:PS204000	J:358007

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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