All Phenotypes Abca4<tm2.1Kpal> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Abca4^tm2.1Kpal
targeted mutation 2.1, Krzysztof Palczewski
MGI:5752222

Summary

2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Abca4^tm2.1Kpal/Abca4^tm2.1Kpal	involves: 129 * 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * C57BL/6N	MGI:5754499
cx2	Abca4^tm2.1Kpal/Abca4^tm2.1Kpal Gnat1^tm1Clma/Gnat1^tm1Clma	involves: 129 * C57BL/6 * C57BL/6N	MGI:5754501

Allelic Composition	Abca4^tm2.1Kpal/Abca4^tm2.1Kpal
Genetic Background	involves: 129 * 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6 * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca4^tm2.1Kpal mutation (0 available); any Abca4 mutation (107 available)

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

pigmentation

lipofuscinosis ( J:221141 )

• retinal pigment epithelium exhibits increased irregular-shaped dark granules indicative of lipofuscin deposits

vision/eye

vision/eye phenotype ( J:221141 )

N	• mice do not exhibit evidence of photoreceptor degeneration up to 12 months of age or Muller glia activation at 1 or 6 months of age and photoreceptor dark adaptation is unaffected

Allelic Composition	Abca4^tm2.1Kpal/Abca4^tm2.1Kpal Gnat1^tm1Clma/Gnat1^tm1Clma
Genetic Background	involves: 129 * C57BL/6 * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca4^tm2.1Kpal mutation (0 available); any Abca4 mutation (107 available)
Gnat1^tm1Clma mutation (1 available); any Gnat1 mutation (20 available)

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

pigmentation

lipofuscinosis ( J:221141 )

• increase in lipofuscin autofluorescence in the fundus

vision/eye

abnormal cone electrophysiology ( J:221141 )

• cone responses appear somewhat faster than those of control single Gnat1 homozygotes

• the maximum cone response amplitude is about 20% lower than in single Gnat1 homozygous controls

• the later phase of cone dark adaptation in vivo is delayed, however the early phase of cone recovery is not affected

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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