Phenotypes associated with this allele

• Allele Symbol: Cep120^tm1.2Blnw
• Allele Name: targeted mutation 1.2, Baolin Wang
• Allele ID: MGI:5749514
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cep120^tm1.2Blnw/Cep120^tm1.2Blnw	involves: 129S6/SvEvTac * C57BL/6	MGI:5810004
cn2	Cep120^tm1.1Blnw/Cep120^tm1.2Blnw Tg(Nes-cre)1Atp/0	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:5810003

Genotype
MGI:5810004

hm1

• Allelic Composition: Cep120^tm1.2Blnw/Cep120^tm1.2Blnw
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

Developmentof Cep120^tm1.2Blnw/Cep120^tm1.2Blnw embryos is delayed and the heart loops in the opposite direction

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:220629 )

• homozygotes die around E9.5

embryo

abnormal developmental patterning ( J:220629 )

• homozygous embryos fail to bend

embryonic growth arrest ( J:220629 )

• homozygotes exhibit developmental arrest at E8.5

cardiovascular system

abnormal direction of heart looping ( J:220629 )

• E9.5 homozygotes display heart looping in the opposite direction

cellular

abnormal cell morphology ( J:220629 )

• most primary MEFs lack either one or both centrioles, whereas the vast majority of wild-type MEFs each contain two centrioles, as indicated by gamma-tubulin staining

• immunostaining for Cep164, 2700049A03Rik (Ta3), and Odf2 indicates that the missing centriole is the mother centriole; thus, the remaining single centriole is the daughter centriole

abnormal cilium morphology ( J:220629 )

• primary MEFs derived from E9.5 mutant embryos lack cilia, as shown by the absence of staining for acetylated tubulin and Arl13b, two cilia markers

Genotype
MGI:5810003

cn2

• Allelic Composition: Cep120^tm1.1Blnw/Cep120^tm1.2Blnw; Tg(Nes-cre)1Atp/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

Hydrocephalus, dilated brain ventricles, and smaller cerebellum in Cep120^tm1.1Blnw/Cep120^tm1.2BlnwTg(Nes-cre)1Atp/0 mice

nervous system

absent brain ependyma motile cilia ( J:220629 )

• at P14, no cilia are detected on brain ependymal cells

decreased cerebellar granule cell precursor proliferation ( J:220629 )

• only a small number of cerebellar granule neuron progenitors (GNPs) are BrdU+ at P1 and the number is even lower at P7 and P14, indicating reduced GNP proliferation

• however, no significant apoptosis is detected in mutant or wild-type GNPs, as shown by TUNEL analysis

abnormal cerebellum development ( J:220629 )

• however, the Purkinje cell layer is present

• cerebellum is developmentally arrested at birth and shows a complete lack of foliation

• only a small number of cerebellar GNPs is detected at P7 and P14

• GNP number in EGL (external germinal layer) and IGL (inner granule layer) is slightly lower at P1, further reduced at P7, and barely detectable at P14

• at P14, cilia do not develop on cerebellar GNPs

absent cerebellar foliation ( J:220629 )

• at P14, the cerebellum lacks its typical foliation pattern

• complete lack of foliation is noted at P7 and P14

thin external granule cell layer ( J:220629 )

• at P1, the EGL is very thin relative to that in wild-type controls

hydrocephaly ( J:220629 )

• although newborns appear overtly normal, mice develop hydrocephalus by P7

• hydrocephalus becomes severe by P14 and is most likely due to loss of motile cilia on brain ependymal cells

abnormal choroid plexus morphology ( J:220629 )

• at P14, slightly fewer cilia are formed in the choroid plexus relative to wild-type controls, as determined by immunostaining for both acetylated tubulin and Arl13b (cilia markers)

dilated brain ventricle ( J:220629 )

• at P14, brain ventricles are severely dilated

abnormal cerebral cortex morphology ( J:220629 )

• at P14, the cerebral cortex is markedly larger than normal due to the accumulation of cerebrospinal fluid

small cerebellum ( J:220629 )

• at P14, the cerebellum is significantly smaller than normal

cerebellum hypoplasia ( J:220629 )

• at P14, mice exhibit severe cerebellar hypoplasia due to failed centriole duplication and maturation and ciliogenesis

cellular

abnormal cell morphology ( J:220629 )

• very few centrioles are present in cerebellar GNPs relative to wild-type controls; remaining single centrioles are daughter centrioles, based on negative Odf2 and 2700049A03Rik (Ta3) staining

abnormal cilium morphology ( J:220629 )

• at P14, no cilia are detected on cerebellar GNPs, unlike in wild-type controls

absent brain ependyma motile cilia ( J:220629 )

• at P14, no cilia are detected on brain ependymal cells

decreased cerebellar granule cell precursor proliferation ( J:220629 )

• only a small number of cerebellar granule neuron progenitors (GNPs) are BrdU+ at P1 and the number is even lower at P7 and P14, indicating reduced GNP proliferation

• however, no significant apoptosis is detected in mutant or wild-type GNPs, as shown by TUNEL analysis

growth/size/body

postnatal growth retardation ( J:220629 )

• mice fail to grow

behavior/neurological

abnormal motor coordination/balance ( J:220629 )

• mice lose motor balance and coordination by P14