Phenotypes associated with this allele

• Allele Symbol: Gas2l2^{tm1a(KOMP)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4841109
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gas2l2^tm1a(KOMP)Wtsi/Gas2l2^tm1a(KOMP)Wtsi	C57BL/6N-Gas2l2^tm1a(KOMP)Wtsi/Wtsi	MGI:5883880
hm2	Gas2l2^tm1a(KOMP)Wtsi/Gas2l2^tm1a(KOMP)Wtsi	involves: C57BL/6N	MGI:6343410

Genotype
MGI:5883880

hm1

• Allelic Composition: Gas2l2^{tm1a(KOMP)Wtsi}/Gas2l2^{tm1a(KOMP)Wtsi}
• Genetic Background: C57BL/6N-Gas2l2^{tm1a(KOMP)Wtsi}/Wtsi
• Cell Lines: EPD0626_4_G11

Data Sources

IMPC Data for Gas2l2

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

adipose tissue

decreased total body fat amount ( J:211773 )

♂

IMPC - WTSI

behavior/neurological

absent pinna reflex ( J:211773 )

♂

IMPC - WTSI

cardiovascular system

abnormal ophthalmic artery origin ( J:239583 )

DMDD

abnormal external carotid artery origin ( J:239583 )

DMDD

absent segment of anterior cerebral artery ( J:239583 )

DMDD

abnormal middle cerebral artery origin ( J:239583 )

DMDD

abnormal vertebral artery topology ( J:239583 )

DMDD

absent stapedial artery ( J:239583 )

DMDD

dilated liver sinusoidal space ( J:239583 )

DMDD

abnormal ductus venosus valve morphology ( J:239583 )

DMDD

abnormal left vena cava superior connection ( J:239583 )

DMDD

perimembraneous ventricular septal defect ( J:239583 )

DMDD

craniofacial

abnormal basisphenoid bone morphology ( J:239583 )

DMDD

abnormal Meckel's cartilage morphology ( J:239583 )

DMDD

absent tongue ( J:239583 )

DMDD

oral atresia ( J:239583 )

DMDD

abnormal snout morphology ( J:239583 )

DMDD

digestive/alimentary system

absent tongue ( J:239583 )

DMDD

absent salivary gland ( J:239583 )

DMDD

embryo

abnormal Mullerian duct topology ( J:239583 )

DMDD

incomplete rostral neuropore closure ( J:239583 )

DMDD

endocrine/exocrine glands

absent salivary gland ( J:239583 )

DMDD

biliary cyst ( J:239583 )

DMDD

abnormal thymus topology ( J:239583 )

DMDD

growth/size/body

absent tongue ( J:239583 )

DMDD

oral atresia ( J:239583 )

DMDD

abnormal snout morphology ( J:239583 )

DMDD

biliary cyst ( J:239583 )

DMDD

hearing/vestibular/ear

absent stapedial artery ( J:239583 )

DMDD

abnormal auditory tube morphology ( J:239583 )

DMDD

abnormal auditory brainstem response ( J:211773 )

IMPC - WTSI

hematopoietic system

abnormal thymus topology ( J:239583 )

DMDD

immune system

abnormal thymus topology ( J:239583 )

DMDD

liver/biliary system

dilated liver sinusoidal space ( J:239583 )

DMDD

biliary cyst ( J:239583 )

DMDD

muscle

abnormal eye muscle morphology ( J:239583 )

DMDD

neoplasm

increased trigeminal neuroma incidence ( J:239583 )

DMDD

embryo tumor ( J:239583 )

DMDD

nervous system

absent segment of anterior cerebral artery ( J:239583 )

DMDD

abnormal middle cerebral artery origin ( J:239583 )

DMDD

incomplete rostral neuropore closure ( J:239583 )

DMDD

increased trigeminal neuroma incidence ( J:239583 )

DMDD

abnormal midbrain morphology ( J:239583 )

DMDD

abnormal forebrain morphology ( J:239583 )

DMDD

fused dorsal root ganglion ( J:239583 )

DMDD

normal phenotype

no abnormal phenotype detected ( J:239583 )

DMDD

renal/urinary system

dilated ureter ( J:239583 )

DMDD

reproductive system

female infertility ( J:211773 )

♀

IMPC - WTSI

male infertility ( J:211773 )

♂

IMPC - WTSI

skeleton

abnormal basisphenoid bone morphology ( J:239583 )

DMDD

abnormal Meckel's cartilage morphology ( J:239583 )

DMDD

absent vertebral arch ( J:239583 )

DMDD

fusion of vertebral arches ( J:239583 )

DMDD

abnormal vertebral body morphology ( J:239583 )

DMDD

vision/eye

abnormal eye muscle morphology ( J:239583 )

DMDD

aphakia ( J:239583 )

DMDD

absent optic cup ( J:239583 )

DMDD

abnormal optic stalk morphology ( J:239583 )

DMDD

anophthalmia ( J:239583 )

DMDD

Genotype
MGI:6343410

hm2

• Allelic Composition: Gas2l2^{tm1a(KOMP)Wtsi}/Gas2l2^{tm1a(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N

mortality/aging

neonatal lethality, incomplete penetrance ( J:277289 )

• neonatal lethality, with only two mice surviving

growth/size/body

abnormal nasal cavity morphology ( J:277289 )

• remodeling of the nasal cavity

abnormal paranasal sinus morphology ( J:277289 )

• mucus accumulation in multiple sinuses

situs ambiguus ( J:277289 )

• situs ambiguus is seen in 3 of 6 E18.5 mutants

respiratory system

abnormal nasal cavity morphology ( J:277289 )

• remodeling of the nasal cavity

abnormal paranasal sinus morphology ( J:277289 )

• mucus accumulation in multiple sinuses

abnormal tracheal ciliated epithelium morphology ( J:277289 )

• tracheal epithelial cells exhibit a lack of alignment of the basal feet within individual cells

• however, the distribution and spacing of the basal bodies is normal

• ciliary beat frequency of tracheal epithelial cells from embryonic tracheas is hyperkinetic

impaired mucociliary clearance ( J:277289 )

• mice exhibit mucus accumulation in multiple sinuses

craniofacial

abnormal nasal cavity morphology ( J:277289 )

• remodeling of the nasal cavity

abnormal paranasal sinus morphology ( J:277289 )

• mucus accumulation in multiple sinuses

cardiovascular system

dextrocardia ( J:277289 )

• dextrocardia is seen in 3 of 6 E18.5 mutants

nervous system

hydrocephaly ( J:277289 )

• surviving mice exhibit hydrocephalus at 14 and 21 days of age