All Phenotypes Chm<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Chm^tm1Jvdh/Chm⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:3052938
ht2	Chm^tm1Jvdh/Chm⁺	involves: 129P2/OlaHsd * C57BL/6 * SMZ	MGI:3052948
ht3	Chm^tm1.2Seab/Chm⁺	involves: 129X1/SvJ	MGI:3620089
ht4	Chm^tm1.3Seab/Chm⁺	involves: 129X1/SvJ	MGI:3620090

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

mortality/aging

prenatal lethality, complete penetrance ( J:40673 )

• complete embryonic lethality is seen in female mice with maternal inheritance of the mutant allele and in hemizygous mutant males thus female heterozygotes can only be generated using male chimeras

embryonic lethality during organogenesis, complete penetrance ( J:92328 )

• no live mutants are found beyond E11.5

cardiovascular system

decreased angiogenesis ( J:92328 )

• at E11.5 there is an almost complete absence of fetal blood vessels in the labyrinth and chorionic plate

• the primitive vascular plexis forms on the yolk sac but is not remodeled into an organized vascular network

embryo

embryonic growth retardation ( J:92328 )

• by E7.5

small ectoplacental cone ( J:92328 )

• at E7.5 the ectoplacental cone is smaller compared to wild-type

abnormal placenta labyrinth morphology ( J:92328 )

• at E11.5 the labyrinthine layer is thinner than normal and the demarcation between the labyrinthine and spongiotrophoblast layers is disrupted

small placenta ( J:92328 )

• at E7.5 the chorionic placenta is smaller compared to wild-type

• at E11.5 mutant placentas are smaller compared to wild-type

abnormal trophoblast layer morphology ( J:92328 )

• the chorionic trophoblast remains densely packed at the base of the placenta at E7.5 and contains more giant cells compared to wild-type mice

abnormal spongiotrophoblast layer morphology ( J:92328 )

• at E11.5 the spongiotrophoblast layer is thinner than normal however the giant cell population is expanded and may form multiple cell layers unlike in wild-type mice

abnormal visceral yolk sac morphology ( J:92328 )

• the mesoderm and endoderm tend to separate resulting in a rough appearing yolk sac in mutants

abnormal visceral yolk sac blood island morphology ( J:92328 )

• the number of blood islands is reduced in the yolk sac of mutant mice

failure of chorioallantoic fusion ( J:92328 )

• the allantois fails to invade the chorionic plate

abnormal vitelline vascular remodeling ( J:92328 )

• the primitive vascular plexis forms on the yolk sac but is not remodeled into an organized vascular network

growth/size/body

embryonic growth retardation ( J:92328 )

• by E7.5

vision/eye

decreased retina photoreceptor cell number ( J:40673 )

• in F1 females the number of photoreceptor cell bodies in the outer nuclear layer is reduced resulting in an irregular border between the outer nuclear layer and the outer plexiform layer

nervous system

decreased retina photoreceptor cell number ( J:40673 )

• in F1 females the number of photoreceptor cell bodies in the outer nuclear layer is reduced resulting in an irregular border between the outer nuclear layer and the outer plexiform layer

Allelic Composition	Chm^tm1Jvdh/Chm⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * SMZ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chm^tm1Jvdh mutation (0 available); any Chm mutation (16 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:92328 )

• 10 viable heterozygous females were found in an interspecies cross with Mus spretus compared to 31 wild-type females from the same cross

• only 1 viable female was found when a backcross of the F1 heterozygous hybrid females to C57BL/6 was performed

vision/eye

vision/eye phenotype ( J:92328 )

N	• 3 month old hybrid mutant females show no signs of photoreceptor loss unlike heterozygous females on a pure Mus musculus background

Allelic Composition	Chm^tm1.2Seab/Chm⁺
Genetic Background	involves: 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chm^tm1.2Seab mutation (0 available); any Chm mutation (16 available)

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

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:105458 )

• 50% reduction in prenylation of Rab27a

• 50% of Rab27a occurs in cytosol rather than cell membranes

vision/eye

abnormal retina morphology ( J:105458 )

• early onset and progressive retinopathy

short photoreceptor outer segment ( J:105458 )

• delayed development of outer segments

• outer segments approximately 50% shorter at 15-17 days of age

abnormal retina pigmentation ( J:105458 )

• hypopigmentation of retina

• small whitish patches observable at 1 month of age

abnormal rod electrophysiology ( J:105458 )

• electroretinography shows a clear reduction of dark-adapted a and b wave amplitude

pigmentation

abnormal retina pigmentation ( J:105458 )

• hypopigmentation of retina

• small whitish patches observable at 1 month of age

nervous system

short photoreceptor outer segment ( J:105458 )

• delayed development of outer segments

• outer segments approximately 50% shorter at 15-17 days of age

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

Allelic Composition	Chm^tm1.3Seab/Chm⁺
Genetic Background	involves: 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chm^tm1.3Seab mutation (0 available); any Chm mutation (16 available)

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

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:105458 )

• 50% reduction in prenylation of Rab27a

• 50% of Rab27a occurs in cytosol rather than cell membranes

vision/eye

abnormal retina morphology ( J:105458 )

• early onset and progressive retinopathy

abnormal photoreceptor outer segment morphology ( J:105458 )

• delayed development of outer segments

• outer segments approximately 50% shorter at 15-17 days of age

• areas where rod outer segments have disappeared

retina photoreceptor degeneration ( J:105458 )

• histologically evident late onset progressive degeneration of photoreceptors

abnormal retina pigment epithelium morphology ( J:105458 )

• patchy depigmented areas

• becoming thinner

abnormal retina pigmentation ( J:105458 )

• hypopigmentation of retina

• small whitish patches observable at 1 month of age

thin retina outer nuclear layer ( J:105458 )

• slight reduction in thickness at 2 months of age

• 8-10 nuclei thick rather than 10-12 at 8 months of age

• thickness declines to 5-6 nuclei later with areas of 1-2 nuclei or no nuclei at all

abnormal rod electrophysiology ( J:105458 )

• electroretinography shows a clear reduction of dark-adapted a and b wave amplitude

pigmentation

abnormal retina pigment epithelium morphology ( J:105458 )

• patchy depigmented areas

• becoming thinner

abnormal retina pigmentation ( J:105458 )

• hypopigmentation of retina

• small whitish patches observable at 1 month of age

nervous system

abnormal photoreceptor outer segment morphology ( J:105458 )

• delayed development of outer segments

• outer segments approximately 50% shorter at 15-17 days of age

• areas where rod outer segments have disappeared

retina photoreceptor degeneration ( J:105458 )

• histologically evident late onset progressive degeneration of photoreceptors

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