Phenotypes Associated with This Genotype

Genotype
MGI:3042284

• Allelic Composition: Fst^tm1Zuk/Fst^tm1Zuk
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

neonatal lethality, complete penetrance ( J:23925 )

• homozygotes survive to birth but die within a few hours of birth due to respiratory failure

craniofacial

growth retardation of incisors ( J:23925 )

• all newborn homozygotes (11 of 11) show delayed development of lower incisors

absent hard palate ( J:23925 )

• 55% (6 of 11) newborn homozygotes lack a hard palate

growth/size/body

growth retardation of incisors ( J:23925 )

• all newborn homozygotes (11 of 11) show delayed development of lower incisors

absent hard palate ( J:23925 )

• 55% (6 of 11) newborn homozygotes lack a hard palate

decreased fetal size ( J:23925 )

• at E18.5, homozygotes are smaller than wild-type counterparts

decreased fetal weight ( J:23925 )

• at E18.5, homozygotes weigh ~12% less than wild-type counterparts

fetal growth retardation ( J:23925 )

• newborn homozygotes are growth retarded

muscle

decreased skeletal muscle mass ( J:23925 )

• 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

skeleton

growth retardation of incisors ( J:23925 )

• all newborn homozygotes (11 of 11) show delayed development of lower incisors

abnormal rib development ( J:23925 )

• 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)

decreased rib number ( J:23925 )

• in 2 of 11 homozygotes, the thirteenth pair of ribs is absent

decreased lumbar vertebrae number ( J:23925 )

• all (11 of 11) newborn homozygotes have five lumbar vertebrae instead of six found in wild-type mice

digestive/alimentary system

absent hard palate ( J:23925 )

• 55% (6 of 11) newborn homozygotes lack a hard palate

homeostasis/metabolism

cyanosis ( J:23925 )

• newborn homozygotes appear cyanotic

respiratory system

respiratory failure ( J:23925 )

• newborn homozygotes fail to breathe

• mutant lungs are sank in liquid, and alveolar spaces appear poorly expanded, although no primary pulmonary defects are detected

integument

abnormal vibrissa morphology ( J:23925 )

• mutant whiskers are very thin and incorrectly oriented with shafts projecting parallel before turning perpendicularly

hyperkeratosis ( J:23925 )

• newborns display a 25% increase in the stratum corneum cells relative to wild-type controls

thick epidermis ( J:23925 )

• newborn homozygotes show a thickened granular and stratum corneum

pallor ( J:23925 )

• newborn homozygotes appear hypoxic (pale)

shiny skin ( J:23925 )

• newborn homozygotes display a shiny skin

tight skin ( J:23925 )

• newborn homozygotes display a taut skin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
restrictive dermopathy		DOID:0060762	OMIM:PS275210	J:23925