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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Kxd1tm1Wli
targeted mutation 1, Wei Li
MGI:5466155
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Kxd1tm1Wli/Kxd1tm1Wli involves: 129 * C57BL/6J MGI:5466156


Genotype
MGI:5466156
hm1
Allelic
Composition
Kxd1tm1Wli/Kxd1tm1Wli
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kxd1tm1Wli mutation (0 available); any Kxd1 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• slightly increased numbers of small and rounded melanosomes in the choroid
• slightly increased numbers of small and rounded melanosomes in the retinal pigment epithelium
• reduced eumelanin content compared with wild-type mice

hematopoietic system
• reduced without affecting the total platelet count

vision/eye
• slightly increased numbers of small and rounded melanosomes in the choroid
• slightly increased numbers of small and rounded melanosomes in the retinal pigment epithelium
• reduced eumelanin content compared with wild-type mice

cellular
N
• no apparent changes of intracellular Notch1 (NTM) levels are observed in isolated mouse embryonic fibroblasts (MEFs) relative to wild-type MEFs

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Hermansky-Pudlak syndrome DOID:3753 OMIM:PS203300
J:192646





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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last database update
11/05/2024
MGI 6.24
The Jackson Laboratory