Phenotypes associated with this allele

• Allele Symbol: Gata6^tm1Msp
• Allele Name: targeted mutation 1, Michael S Parmacek
• Allele ID: MGI:2177785
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gata6^tm1Msp/Gata6^tm1Msp	involves: 129X1/SvJ * C57BL/6 * CD-1	MGI:3851173
cx2	Gata6^tm1Msp/Gata6^+ Nkx2-1^tm1Shk/Nkx2-1^+	involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1	MGI:4949670

Genotype
MGI:3851173

hm1

• Allelic Composition: Gata6^tm1Msp/Gata6^tm1Msp
• Genetic Background: involves: 129X1/SvJ * C57BL/6 * CD-1

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:51304 )

• mice die between E6.5 and E7.5

embryo

increased embryonic tissue cell apoptosis ( J:51304 )

• in embryos at E6.5 and E7.5

increased embryonic epiblast cell apoptosis ( J:51304 )

• at E7.0, the epiblast frequently contains pyknotic nuclei unlike in wild-type mice

abnormal endoderm development ( J:51304 )

• expression of endodermal markers is disrupted

embryonic growth retardation ( J:51304 )

decreased embryo size ( J:51304 )

• 10% to 20% at E6.5

small embryonic epiblast ( J:51304 )

• at E7.0, the epiblast is reduced

cellular

increased embryonic tissue cell apoptosis ( J:51304 )

• in embryos at E6.5 and E7.5

increased embryonic epiblast cell apoptosis ( J:51304 )

• at E7.0, the epiblast frequently contains pyknotic nuclei unlike in wild-type mice

growth/size/body

embryonic growth retardation ( J:51304 )

decreased embryo size ( J:51304 )

• 10% to 20% at E6.5

Genotype
MGI:4949670

cx2

• Allelic Composition: Gata6^tm1Msp/Gata6⁺; Nkx2-1^tm1Shk/Nkx2-1⁺
• Genetic Background: involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * CD-1

mortality/aging

postnatal lethality, incomplete penetrance ( J:117072 )

• only 7% (instead of expected 25%) of double heterozygotes are recovered at 2 weeks of age

• however, normal numbers are obtained prior to birth (E18.5)

respiratory system

abnormal lung development ( J:117072 )

• at E18.5, airway development and differentiation of the distal epithelium are severely impaired, as shown by increased mesenchymal thickness, reduced sacculation, decreased surfactant production and increased glycogen content

• however, lung-to-body weight ratios and tidal volumes are not significantly altered

abnormal lung saccule morphology ( J:117072 )

• at E18.5, lung sacculation is significantly reduced in the distal airways

thick lung-associated mesenchyme ( J:117072 )

• at E18.5, a 2-fold increase in mesenchymal thickness is observed

abnormal lung epithelium morphology ( J:117072 )

• at E18.5, lung epithelial differentiation is severely impaired, as shown by a more focal surfactant protein C (SP-C) protein expression pattern, reduced CC10 (Clara-cell-marker) protein expression, and a more tight, focal expression of aquaporin-5 and SP-C that is less evenly distributed throughout the distal airspaces

abnormal pulmonary alveolus epithelium morphology ( J:117072 )

• distal airway cells are lined with large cuboidal cells that contain large glycogen-filled vacuoles but lack lamellar bodies

absent alveolar lamellar bodies ( J:117072 )

• lamellar bodies are either absent or only rarely observed

decreased surfactant secretion ( J:117072 )

• at 3-5 months of age, a ~60% reduction in phospholipid content is noted in bronchioalveolar lavage fluid