All Phenotypes Chm<tm1.1Seab> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Chm^tm1.1Seab
targeted mutation 1.1, Miguel C Seabra
MGI:3617903

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Chm^tm1.1Seab/Chm^tm1.1Seab Tg(Six3-cre)69Frty/0	involves: 129X1/SvJ * C57BL/6 * DBA/2	MGI:3620093
cn2	Chm^tm1.1Seab/Y Tg(Six3-cre)69Frty/0	involves: 129X1/SvJ * C57BL/6 * DBA/2	MGI:3620094
ot3	Chm^tm1.1Seab/Y	involves: 129X1/SvJ	MGI:3620092

Allelic Composition	Chm^tm1.1Seab/Chm^tm1.1Seab Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chm^tm1.1Seab mutation (1 available); any Chm mutation (14 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal retina morphology ( J:105458 )

• no depigmentation in the retinal pigment layer

short photoreceptor outer segment ( J:105458 )

• significantly shorter than normal

thin retina outer nuclear layer ( J:105458 )

• 7-8 nuclei thick at 2 months of age

• 4-5 nuclei thick at 4 months of age

abnormal rod electrophysiology ( J:105458 )

• single flash electroretinography shows the loss of "a" waves

nervous system

short photoreceptor outer segment ( J:105458 )

• significantly shorter than normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
choroideremia		DOID:9821	OMIM:303100	J:105458

Allelic Composition	Chm^tm1.1Seab/Y Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129X1/SvJ * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chm^tm1.1Seab mutation (1 available); any Chm mutation (14 available)
Tg(Six3-cre)69Frty mutation (2 available)

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

vision/eye

abnormal retina morphology ( J:105458 )

• no depigmentation in the retinal pigment layer

short photoreceptor outer segment ( J:105458 )

• significantly shorter than normal

thin retina outer nuclear layer ( J:105458 )

• 7-8 nuclei thick at 2 months of age

• 4-5 nuclei thick at 4 months of age

abnormal rod electrophysiology ( J:105458 )

• single flash electroretinography shows the loss of "a" waves

nervous system

short photoreceptor outer segment ( J:105458 )

• significantly shorter than normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
choroideremia		DOID:9821	OMIM:303100	J:105458

Allelic Composition	Chm^tm1.1Seab/Y
Genetic Background	involves: 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chm^tm1.1Seab mutation (1 available); any Chm mutation (14 available)

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

normal phenotype

no abnormal phenotype detected ( J:105458 )

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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