Phenotypes associated with this allele

• Allele Symbol: Cux1^tm1Mbu
• Allele Name: targeted mutation 1, Meinrad Busslinger
• Allele ID: MGI:2388352
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cux1^tm1Mbu/Cux1^tm1Mbu	involves: 129P2/OlaHsd * C57BL/6	MGI:3051016
hm2	Cux1^tm1Mbu/Cux1^tm1Mbu	involves: C3H/He	MGI:3051019
hm3	Cux1^tm1Mbu/Cux1^tm1Mbu	involves: OF1	MGI:3051020

Genotype
MGI:3051016

hm1

• Allelic Composition: Cux1^tm1Mbu/Cux1^tm1Mbu
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:71407 )

• the vast majority of homozygotes die within 2-6 hours from lung failure

• mutant pups cannot be rescued by i.p. injection of dexamethasone into pregnant females at days 16.5-18.5 of gestation

• a few homozygotes (~1%) survive beyond birth

growth/size/body

postnatal growth retardation ( J:71407 )

• rare survivors (1%) are severely growth-retarded

• growth retardation is not caused by dysfunction of the thyroid or pituitary glands

homeostasis/metabolism

cyanosis ( J:71407 )

• most homozygotes become cyanotic shortly after birth despite normal respiratory muscle contractions

respiratory system

abnormal lung morphology ( J:71407 )

• lungs of mutant newborns show morphological features normally observed only at the beginning of the saccular stage

• at birth, the mutant lung septa are still abnormally thick and consist of pneumocyte precursors (cuboidal epithelial cells) with large deposits of loose material (probably glycogen)

abnormal lung development ( J:71407 )

• lungs of mutant newborns display a maturation delay of 2 days

abnormal pulmonary alveolar duct morphology ( J:71407 )

• lungs of adult survivors contain fully differentiated type I and type II pneumocytes, a well-formed blood-air barrier, and a mature microvasculature

• however, the air spaces are dilated, and the complexity of the alveolar network is reduced due to delayed initiation and/or incomplete execution of alveolar differentiation

abnormal alveolocapillary membrane morphology ( J:71407 )

• the maturation delay results in the absence of a mature blood-air barrier at birth

integument

absent auchene hairs ( J:71407 )

absent awl hair ( J:71407 )

sparse hair ( J:71407 )

• rare survivors (1%) have only a sparse pelage of abnormal hair

• at P7, mutants start to lose most of their pelage hair

absent guard hair ( J:71407 )

abnormal hair shaft morphology ( J:71407 )

• the mutant pelage contains twisted, bifurcated, circle, and corkscrew hair as well as hair with nodules or longitudinal grooving

absent zigzag hairs ( J:71407 )

abnormal hair follicle morphology ( J:71407 )

• morphogenesis of hair follicles is disrupted in 3-wk-old mutants: they appear misoriented, cystic or even sclerotic, and contain more than one degenerated hair shaft

• scales are absent, suggesting aberrant development of the cuticle cell layers in the hair follicle

absent hair follicle inner root sheath ( J:71407 )

• the inner root sheath is reduced in mutant hair follicles

abnormal hair follicle orientation ( J:71407 )

curly vibrissae ( J:71407 )

• pups are born with curly whiskers

short vibrissae ( J:71407 )

• pups are born with only a few stunted whiskers

Genotype
MGI:3051019

hm2

• Allelic Composition: Cux1^tm1Mbu/Cux1^tm1Mbu
• Genetic Background: involves: C3H/He

mortality/aging

neonatal lethality, incomplete penetrance ( J:71407 )

• the vast majority of homozygotes die shortly after birth from respiratory failure

respiratory system

respiratory failure ( J:71407 )

Genotype
MGI:3051020

hm3

• Allelic Composition: Cux1^tm1Mbu/Cux1^tm1Mbu
• Genetic Background: involves: OF1

mortality/aging

mortality/aging ( J:71407 )

N • the majority of homozygotes survive on the outbred OF1 background

growth/size/body

postnatal growth retardation ( J:71407 )

• homozygotes are severely growth-retarded

• growth retardation is not caused by dysfunction of the thyroid or pituitary glands

reproductive system

reproductive system phenotype ( J:71407 )

N • surprisingly, matings of OF1 mutant males with wild-type females resulted in litters of normal size, indicating normal male fertility

integument

abnormal coat/ hair morphology ( J:71407 )

• the mutant pelage contains twisted, bifurcated, circle, and corkscrew hair as well as hair with nodules or longitudinal grooving

absent auchene hairs ( J:71407 )

absent awl hair ( J:71407 )

sparse hair ( J:71407 )

• rare survivors (1%) have only a sparse pelage of abnormal hair

• at P7, mutants start to lose most of their pelage hair

absent guard hair ( J:71407 )

absent zigzag hairs ( J:71407 )

abnormal hair follicle morphology ( J:71407 )

• morphogenesis of hair follicles is disrupted in 3-wk-old mutants: they appear misoriented, cystic or even sclerotic, and contain more than one degenerated hair shaft

• scales are absent, suggesting aberrant development of the cuticle cell layers in the hair follicle

absent hair follicle inner root sheath ( J:71407 )

• the inner root sheath is reduced in mutant hair follicles

abnormal hair follicle orientation ( J:71407 )

curly vibrissae ( J:71407 )

• pups are born with curly whiskers

short vibrissae ( J:71407 )

• pups are born with only a few stunted whiskers