Phenotypes associated with this allele

• Allele Symbol: Numb^tm1Zili
• Allele Name: targeted mutation 1, Olav Zilian
• Allele ID: MGI:2388022
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Numb^tm1Zili/Numb^tm1Zili Tg(Vil1-cre/ERT2)23Syr/?	involves: 129/Sv * C57BL/6	MGI:5699005
cn2	Numb^tm1Zili/Numb^tm1Zili Tg(En2-cre)3Alj/?	involves: 129/Sv * C57BL/6	MGI:3783762
cn3	Numb^tm1Zili/Numb^tm1Zili Numbl^tm1Zili/Numbl^tm1Zili Tg(Mx1-cre)1Cgn/?	involves: 129/Sv * C57BL/6 * CBA	MGI:3783760

Genotype
MGI:5699005

cn1

• Allelic Composition: Numb^tm1Zili/Numb^tm1Zili; Tg(Vil1-cre/ERT2)23Syr/?
• Genetic Background: involves: 129/Sv * C57BL/6

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

homeostasis/metabolism

abnormal intestinal cholesterol absorption ( J:226578 )

• cholesterol endocytosis fails in tamoxifen treated mice

• less cholesterol absorption in liver

decreased circulating cholesterol level ( J:226578 )

• lower plasma cholesterol levels in tamoxifen treated mice

• partial resistance to diet induced hypercholesterolemia

digestive/alimentary system

abnormal intestinal cholesterol absorption ( J:226578 )

• cholesterol endocytosis fails in tamoxifen treated mice

• less cholesterol absorption in liver

Genotype
MGI:3783762

cn2

• Allelic Composition: Numb^tm1Zili/Numb^tm1Zili; Tg(En2-cre)3Alj/?
• Genetic Background: involves: 129/Sv * C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:87408 )

• rare, severely affected mice with nearly complete recombination die at 2 - 3 weeks of age

nervous system

abnormal cerebellum development ( J:87408 )

abnormal cerebellar lobule formation ( J:87408 )

• some lobules are reduced in size with lobes VI and VII most severely affected and often fused

• in a few rare cases with near complete recombination lobulation is severely aberrant

abnormal cerebellum external granule cell layer morphology ( J:87408 )

• cells are more densely packed at P4 and the layer is thicker at P10

• however, the number of proliferating cells per lobe length is not significantly different from controls

abnormal cerebellar Purkinje cell layer ( J:87408 )

• cell numbers but not cell density are reduced in the anterior and posterior lobes

abnormal Purkinje cell dendrite morphology ( J:87408 )

• the dendritic tree is often less elaborate

decreased Purkinje cell number ( J:87408 )

• cell numbers but not cell density are reduced in the anterior and posterior lobes

abnormal cerebellar granule layer morphology ( J:87408 )

• contains fewer cells at P4

• however, layer thickness and cell density are similar to controls in adults

thin cerebellar molecular layer ( J:87408 )

abnormal cerebellum vermis morphology ( J:87408 )

• virtually absent in a few rare cases with near complete recombination

• in less severely affected the vermis is slightly flattened

small cerebellum ( J:87408 )

• at P4

• in a few rare cases with near complete recombination the cerebellum is severely reduced in size

behavior/neurological

ataxia ( J:87408 )

• seen in severely affected mice with nearly complete recombination

Genotype
MGI:3783760

cn3

• Allelic Composition: Numb^tm1Zili/Numb^tm1Zili; Numbl^tm1Zili/Numbl^tm1Zili; Tg(Mx1-cre)1Cgn/?
• Genetic Background: involves: 129/Sv * C57BL/6 * CBA

hematopoietic system

hematopoietic system phenotype ( J:133550 )

N • no abnormalities in hematopoiesis are detected