Phenotypes associated with this allele

• Allele Symbol: Cluap1^tm1.2Hmd
• Allele Name: targeted mutation 1.2, Hiroshi Hamada
• Allele ID: MGI:5523142
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cluap1^tm1.2Hmd/Cluap1^tm1.2Hmd	involves: 129S6/SvEvTac * C57BL/6NCr	MGI:5523153

Genotype
MGI:5523153

hm1

• Allelic Composition: Cluap1^tm1.2Hmd/Cluap1^tm1.2Hmd
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCr

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:200709 )

• no mice are recovered at birth

embryonic lethality during organogenesis, incomplete penetrance ( J:200709 )

• fewer than expected mice are present at E12.5

• however, expected numbers are present at E10.5

embryo

absent embryonic cilia ( J:200709 )

• in pit and crown cells with only short protrusions detected

decreased embryonic cilium length ( J:200709 )

• distal appendages and sub-distal appendages are detected at the base of short protrusions indicating impaired axoneme elongation

delayed embryo turning ( J:200709 )

• at E9.0

abnormal lateral plate mesoderm morphology ( J:200709 )

• absent lateral plate mesoderm cilia

open neural tube ( J:200709 )

• at E9.0

nervous system

abnormal ependyma motile cilium physiology ( J:200709 )

• absent neural tube cilia

open neural tube ( J:200709 )

• at E9.0

cardiovascular system

abnormal direction of heart looping ( J:200709 )

• reversed in 3 of 5 mice

cellular

abnormal cilium morphology ( J:200709 )

• absent cilia on mouse embryonic fibroblasts in response to serum starvation

• defects in Hedgehog signaling suggest impaired intraflagellar transport in embryos

absent embryonic cilia ( J:200709 )

• in pit and crown cells with only short protrusions detected

decreased embryonic cilium length ( J:200709 )

• distal appendages and sub-distal appendages are detected at the base of short protrusions indicating impaired axoneme elongation

abnormal ependyma motile cilium physiology ( J:200709 )

• absent neural tube cilia

growth/size/body

heterotaxia ( J:200709 )

• as determined by marker expression

• Background Sensitivity: left-right axis marker expression exhibits background sensitivity

• however, restored expression in crown cells rescues phenotype

homeostasis/metabolism

cardiac edema ( J:200709 )

• at E9.0