Phenotypes associated with this allele

• Allele Symbol: Atmin^gpg6
• Allele Name: gasping 6
• Allele ID: MGI:3640783
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atmin^gpg6/Atmin^gpg6	C3H.C-Atmin^gpg6	MGI:5620375
hm2	Atmin^gpg6/Atmin^gpg6	involves: BALB/cAnN * C3H/HeH	MGI:3834135
ht3	Atmin^gpg6/Atmin^m1H	C3.C-Atmin^gpg6/Atmin^m1H	MGI:5620377

Genotype
MGI:5620375

hm1

• Allelic Composition: Atmin^gpg6/Atmin^gpg6
• Genetic Background: C3H.C-Atmin^gpg6

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

cardiovascular system

cardiovascular system phenotype ( J:217609 )

N • mice exhibit normal cardiac situ

interrupted aortic arch ( J:217609 )

• in 12 of 25 mice

abnormal cardiac outflow tract development ( J:217609 )

• common trunk in 9 of 25 mice

• restricted aortic arch in 3 of 25 mice

cellular

abnormal primary cilium morphology ( J:217609 )

• short cilia on limb buds

• however, limb patterning is normal

decreased embryonic cilium length ( J:217609 )

abnormal embryonic neuroepithelium primary cilium morphology ( J:217609 )

• short cilia

craniofacial

thick upper lip ( J:217609 )

• thickened top lip in all mice

digestive/alimentary system

digestive/alimentary phenotype ( J:217609 )

N • mice exhibit normal stomach situ

embryo

decreased embryonic cilium length ( J:217609 )

abnormal embryonic neuroepithelium primary cilium morphology ( J:217609 )

• short cilia

growth/size/body

thick upper lip ( J:217609 )

• thickened top lip in all mice

left pulmonary isomerism ( J:217609 )

• complete in 15 of 25 mice

• partial in 10 of 25 mice

homeostasis/metabolism

edema ( J:217609 )

• in 23 of 25 mice

nervous system

abnormal embryonic neuroepithelium primary cilium morphology ( J:217609 )

• short cilia

exencephaly ( J:217609 )

• in 24 of 25 mice

respiratory system

left pulmonary isomerism ( J:217609 )

• complete in 15 of 25 mice

• partial in 10 of 25 mice

small lung ( J:217609 )

• in all mice

vision/eye

coloboma ( J:217609 )

• in 17 of 25 mice

microphthalmia ( J:217609 )

• in 17 of 25 mice

Genotype
MGI:3834135

hm2

• Allelic Composition: Atmin^gpg6/Atmin^gpg6
• Genetic Background: involves: BALB/cAnN * C3H/HeH

cardiovascular system

interrupted aortic arch ( J:145068 )

• in 20% of mice

right aortic arch ( J:145068 )

• 10% of mice exhibit an inverted aortic arch

abnormal truncus arteriosus septation ( J:145068 )

• 30% of mice exhibit a common outflow tract unlike in wild-type mice

respiratory system

left pulmonary isomerism ( J:145068 )

• in 65% of mice

right pulmonary isomerism ( J:145068 )

• in 25% of mice

absent lungs ( J:145068 )

• in 15% of mice

growth/size/body

left pulmonary isomerism ( J:145068 )

• in 65% of mice

right pulmonary isomerism ( J:145068 )

• in 25% of mice

situs inversus ( J:145068 )

• partial in 25% of mice

nervous system

spina bifida ( J:145068 )

• in some mice

exencephaly ( J:145068 )

• in 90% of mice

craniofacial

abnormal craniofacial morphology ( J:145068 )

• in 20% of mice

micrognathia ( J:145068 )

embryo

abnormal motile primary cilium morphology ( J:145068 )

• cilia are short and stumpy compared to in wild-type mice

spina bifida ( J:145068 )

• in some mice

homeostasis/metabolism

edema ( J:145068 )

• 60% of mice exhibit external edema

skeleton

micrognathia ( J:145068 )

vision/eye

abnormal eye morphology ( J:145068 )

• in 60% of mice

cellular

abnormal motile primary cilium morphology ( J:145068 )

• cilia are short and stumpy compared to in wild-type mice

renal/urinary system

abnormal kidney epithelium morphology ( J:211696 )

• cellular disorganization; epithelial cells were randomly orientated with respect to each other, rather than the uniform alignment typical of epithelial cells during tubulogen- esis

• apical-basal polarity of the epithelial cells is unaffected

• no alterations in renal ciliary morphology is apparent at E13.5

• no changes in cellular proliferation or apoptosis is apparent in mutant embryos at E13.5

small kidney ( J:211696 )

impaired branching involved in ureteric bud morphogenesis ( J:211696 )

• branching morphogenesis is severely disrupted in E13.5 mutant embryos

• reduced numbers of ureteric bud tips are seen at E13.5

Genotype
MGI:5620377

ht3

• Allelic Composition: Atmin^gpg6/Atmin^m1H
• Genetic Background: C3.C-Atmin^gpg6/Atmin^m1H

cardiovascular system

cardiovascular system phenotype ( J:217609 )

N • mice exhibit normal cardiac situ

craniofacial

thick upper lip ( J:217609 )

• thickened top lip in 14 of 15 mice

digestive/alimentary system

digestive/alimentary phenotype ( J:217609 )

N • mice exhibit normal stomach situ

growth/size/body

thick upper lip ( J:217609 )

• thickened top lip in 14 of 15 mice

left pulmonary isomerism ( J:217609 )

• complete in 13 of 15 mice

homeostasis/metabolism

edema ( J:217609 )

• in 12 of 15 mice

nervous system

exencephaly ( J:217609 )

• in 14 of 15 mice

respiratory system

left pulmonary isomerism ( J:217609 )

• complete in 13 of 15 mice

small lung ( J:217609 )

• in 14 of 15 mice

absent lungs ( J:217609 )

• in 1 of 15 mice

vision/eye

coloboma ( J:217609 )

• in 10 of 15 mice

microphthalmia ( J:217609 )

• in 10 of 15 mice