Phenotypes associated with this allele

• Allele Symbol: Cux1^tm1Ejn
• Allele Name: targeted mutation 1, Ellis J Neufeld
• Allele ID: MGI:1861916
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cux1^tm1Ejn/Cux1^tm1Ejn	B6;129S4-Cux1^tm1Ejn/J	MGI:3835328
hm2	Cux1^tm1Ejn/Cux1^tm1Ejn	C.129S4-Cux1^tm1Ejn	MGI:3835325
hm3	Cux1^tm1Ejn/Cux1^tm1Ejn	involves: 129S4/SvJae * C57BL	MGI:3835320
cx4	Cux1^tm1Ejn/Cux1^tm1Ejn Cys1^cpk/Cys1^cpk	involves: 129S4/SvJae * C57BL/6	MGI:3835329

Genotype
MGI:3835328

hm1

• Allelic Composition: Cux1^tm1Ejn/Cux1^tm1Ejn
• Genetic Background: B6;129S4-Cux1^tm1Ejn/J

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

renal/urinary system

renal/urinary system phenotype ( J:142805 )

N • mice exhibit normal kidneys

Genotype
MGI:3835325

hm2

• Allelic Composition: Cux1^tm1Ejn/Cux1^tm1Ejn
• Genetic Background: C.129S4-Cux1^tm1Ejn

mortality/aging

premature death ( J:90149 )

• mice that survive weaning exhibit a reduced lifespan

postnatal lethality, incomplete penetrance ( J:90149 )

• 4% of weanlings are recovered compared to the expected 25% on a BALB/c background whereas no abnormal mortality is noted on a mixed background

reproductive system

reduced fertility ( J:90149 )

Genotype
MGI:3835320

hm3

• Allelic Composition: Cux1^tm1Ejn/Cux1^tm1Ejn
• Genetic Background: involves: 129S4/SvJae * C57BL

behavior/neurological

abnormal maternal behavior ( J:49157 )

♀ • 50% of pups born to homozygous mothers die during the postnatal period regardless of genotype

pigmentation

darkened coat color ( J:49157 )

• at P8 to P9, mice exhibit a slightly darker and less shiny coat than in wild-type mice

integument

darkened coat color ( J:49157 )

• at P8 to P9, mice exhibit a slightly darker and less shiny coat than in wild-type mice

abnormal hair follicle orientation ( J:49157 )

• hair follicles are more deeply rooted and are mildly disorganized compared to in wild-type mice

curly vibrissae ( J:49157 )

• at P2 with more subtle defects at P19

kinked vibrissae ( J:49157 )

• at P2 with more subtle defects at P19

Genotype
MGI:3835329

cx4

• Allelic Composition: Cux1^tm1Ejn/Cux1^tm1Ejn; Cys1^cpk/Cys1^cpk
• Genetic Background: involves: 129S4/SvJae * C57BL/6

renal/urinary system

kidney cyst ( J:142805 )

• mice develop kidney cysts at the same frequency as in Cys1^cpk homozygotes but cysts are larger in size

• mice exhibit an increase in the number of advanced stage cysts compared to in Cys1^cpk homozygotes

• cysts are primarily restricted to the collecting ducts with few proximal tubule cysts

• proliferation and apoptosis of cystic kidneys is increased compared to in Cys1^cpk homozygotes

enlarged kidney ( J:142805 )

• P10, kidneys are larger than in Cys1^cpk homozygotes

increased kidney weight ( J:142805 )

• at P3 and P10, kidney weight to body weight ratio is larger than in Cys1^cpk homozygotes

homeostasis/metabolism

increased blood urea nitrogen level ( J:142805 )

• compared to in Cys1^cpk homozygotes at P10

growth/size/body

kidney cyst ( J:142805 )

• mice develop kidney cysts at the same frequency as in Cys1^cpk homozygotes but cysts are larger in size

• mice exhibit an increase in the number of advanced stage cysts compared to in Cys1^cpk homozygotes

• cysts are primarily restricted to the collecting ducts with few proximal tubule cysts

• proliferation and apoptosis of cystic kidneys is increased compared to in Cys1^cpk homozygotes

enlarged kidney ( J:142805 )

• P10, kidneys are larger than in Cys1^cpk homozygotes

increased kidney weight ( J:142805 )

• at P3 and P10, kidney weight to body weight ratio is larger than in Cys1^cpk homozygotes