Phenotypes associated with this allele

• Allele Symbol: 2700049A03Rik^tm1Blnw
• Allele Name: targeted mutation 1, Baolin Wang
• Allele ID: MGI:5749516
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	2700049A03Rik^tm1Blnw/2700049A03Rik^tm1Blnw	Not Specified	MGI:5810002

Genotype
MGI:5810002

hm1

• Allelic Composition: 2700049A03Rik^tm1Blnw/2700049A03Rik^tm1Blnw
• Genetic Background: Not Specified

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

cellular

abnormal cell morphology ( J:220629 )

• immunostaining of primary MEFs revealed similar Cep120 signal intensity among the mother and daughter centrioles, indicating loss of the normal asymmetrical localization of Cep120 to daughter centrioles

• average ratio of Cep120 levels at daughter centrioles to those at mother centrioles is ~1 in mutant MEFs versus 1.4 in wild type MEFs

• mutant MEFs show higher Cep120 protein levels at mother centrioles (1:0.74 ratio), whereas Cep120 levels at daughter centrioles are similar to those in wild-type MEFs (~1:1 ratio)

• however, total Cep120 expression levels are not significantly altered relative to wild-type MEFs

abnormal cilium morphology ( J:220629 )

• primary mouse embryonic fibroblasts (MEFs) derived from E10.5 mutant embryos lack cilia, unlike wild-type MEFs