Phenotypes associated with this allele

• Allele Symbol: Deup1^{tm1.1(KOMP)Vlcg}
• Allele Name: targeted mutation 1.1, Velocigene
• Allele ID: MGI:5692826
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Deup1^tm1.1(KOMP)Vlcg/Deup1^tm1.1(KOMP)Vlcg	C57BL/6N-Deup1^tm1.1(KOMP)Vlcg/MbpMmucd	MGI:6480438
cx2	Deup1^tm1.1(KOMP)Vlcg/Deup1^tm1.1(KOMP)Vlcg Tg(CAG-EGFP/CETN2)3-4Jgg/0	involves: BALB/c * C57BL/6 * C57BL/6J * C57BL/6N	MGI:8260935

Genotype
MGI:6480438

hm1

• Allelic Composition: Deup1^{tm1.1(KOMP)Vlcg}/Deup1^{tm1.1(KOMP)Vlcg}
• Genetic Background: C57BL/6N-Deup1^{tm1.1(KOMP)Vlcg}/MbpMmucd
• Cell Lines: 11314B-A6

Data Sources

IMPC Data for Deup1

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

cellular

cellular phenotype ( J:282924 )

N • ependymal cells and mouse tracheal epithelial cells (mTECs) cultured in vitro show no significant change in the number of CEP164-stained basal bodies formed in mature multiciliated cells

N • TEM analysis of fully differentiated cultured ependymal cells shows that >95% of mature basal bodies (centrioles) show a normal cylindrical structure, similar to wild-type cells

N • high resolution TEM on transversally sectioned basal bodies and cilia shows no increase in 9-fold symmetry defects of basal bodies or in the % of cilia with structural defects in fully differentiated ependymal cells

N • both mature basal body (centriole) length and ciliary beat frequency are normal in fully differentiated ependymal cells

N • in vivo, average cilia length formed in mTECs is normal

abnormal intracellular organelle morphology ( J:282924 )

• in vitro, serial TEM analysis of differentiating brain ependymal cells in the growth stage shows no cytoplasmic procentrioles growing from deuterosomes, indicating absence of deuterostomes; instead, singlets, doublets, and groups of procentrioles are observed in the cytoplasm

growth/size/body

decreased body length ( J:211773 )

♂

IMPC - UCD

hematopoietic system

decreased erythrocyte cell number ( J:211773 )

♂

IMPC - UCD

decreased hematocrit ( J:211773 )

♂

IMPC - UCD

decreased hemoglobin content ( J:211773 )

♂

IMPC - UCD

homeostasis/metabolism

decreased circulating calcium level ( J:211773 )

♀

IMPC - UCD

decreased blood urea nitrogen level ( J:211773 )

IMPC - UCD

nervous system

nervous system phenotype ( J:282924 )

N • at 5 months of age, mice show normal brain histology and no evidence of hydrocephalus

N • adult brains show no significant change in the number of foci stained with CEP164 (centrosomal protein 164; a basal body marker) in ependymal cells

respiratory system

respiratory system phenotype ( J:282924 )

N • SEM analysis of adult tracheas shows no significant differences in the tracheal multiciliated epithelium relative to wild-type mice; in vivo, average cilia length formed in mTECs is normal

Genotype
MGI:8260935

cx2

• Allelic Composition: Deup1^{tm1.1(KOMP)Vlcg}/Deup1^{tm1.1(KOMP)Vlcg}; Tg(CAG-EGFP/CETN2)3-4Jgg/0
• Genetic Background: involves: BALB/c * C57BL/6 * C57BL/6J * C57BL/6N
• Cell Lines: 11314B-A6

nervous system

abnormal brain ependyma morphology ( J:282924 )

• at P3-P4, when ependymal progenitor cells differentiate into multiciliated cells (MCCs), no DEUP1 foci are detected in the brain ventricular walls, indicating that deuterosomes are absent, unlike in wild-type ependymal cells

cellular

abnormal intracellular organelle morphology ( J:282924 )

• at P3-P4, when ependymal progenitor cells differentiate into MCCs, no deuterosomes are detected in the brain ventricular walls

abnormal intracellular organelle physiology ( J:282924 )

• live imaging of differentiating ependymal cells shows normal stepwise kinetics of centriole amplification in the absence of deuterosomes; however, the centriolar pathway is enhanced and the procentrioles present in the cytoplasm are organized into smaller groups that do not adopt a ring-shaped morphology

• in the absence of deuterosomes, more procentrioles form along the entire length of the parent centrioles (enabling growth of up to 18 procentrioles from a single parent centriole) while singlets or groups of 2 or 3 procentrioles are also noted in the vicinity of the parent centrioles and further away in the cytoplasm, unlike in control cells where procentrioles are predominantly nucleated from the proximal end of the parent centrioles

• as the amplification stage progresses, singlets or groups of procentrioles are released into the cytoplasm and are organized around the nuclear envelope in a configuration similar to that seen in control cells

• despite the increase in nucleation of procentrioles on the parent centrioles, incomplete rings of SAS6 are often seen around the circumference of parent centrioles and sites unoccupied by procentrioles are observed on the walls of the parent centrioles

• ependymal progenitor cells treated with centrinone (a PLK4 inhibitor) during the proliferation phase to deplete parent centrioles show normal centriole amplification; the final number of centrioles produced in cells with zero parent centrioles is similar to that in cells with two parent centrioles, and procentrioles still form in the absence of pre-existing centrioles and deuterosomes, as either single free-standing procentrioles or small groups of 2 or 3 procentrioles within a cloud of pericentriolar and fibrogranular material