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Phenotypes Associated with This Genotype
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fsttm1Zuk mutation (1 available); any Fst mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• homozygotes survive to birth but die within a few hours of birth due to respiratory failure

• all newborn homozygotes (11 of 11) show delayed development of lower incisors
• 55% (6 of 11) newborn homozygotes lack a hard palate

• all newborn homozygotes (11 of 11) show delayed development of lower incisors
• 55% (6 of 11) newborn homozygotes lack a hard palate
• at E18.5, homozygotes are smaller than wild-type counterparts
• at E18.5, homozygotes weigh ~12% less than wild-type counterparts
• newborn homozygotes are growth retarded

• newborn homozygotes show decreased muscle mass in the diaphragmatic, pectoralis major and intercostal muscles
• however, no primary defects are observed as determined by analysis of ATPase activity, glycogen content and mitochondria

• in 81.8% (9 of 11) homozygotes, development of the thirteenth pair of ribs is limited
• Background Sensitivity: a higher percentage of homozygotes show limited formation of the thirteenth rib pair on an inbred 129/SvEv background than on a hybrid 129/SvEv x C57BL/6 background (81.8% vs 61%, respectively)
• in 2 of 11 homozygotes, the thirteenth pair of ribs is absent
• all (11 of 11) newborn homozygotes have five lumbar vertebrae instead of six found in wild-type mice

digestive/alimentary system
• 55% (6 of 11) newborn homozygotes lack a hard palate

• newborn homozygotes appear cyanotic

respiratory system
• newborn homozygotes fail to breathe
• mutant lungs are sank in liquid, and alveolar spaces appear poorly expanded, although no primary pulmonary defects are detected

• mutant whiskers are very thin and incorrectly oriented with shafts projecting parallel before turning perpendicularly
• newborns display a 25% increase in the stratum corneum cells relative to wild-type controls
• newborn homozygotes show a thickened granular and stratum corneum
• newborn homozygotes appear hypoxic (pale)
• newborn homozygotes display a shiny skin
• newborn homozygotes display a taut skin

Mouse Models of Human Disease
OMIM ID Ref(s)
Restrictive Dermopathy, Lethal 275210 J:23925

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory