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. 2021 May 8;185(7):2241–2249. doi: 10.1002/ajmg.a.62221

TABLE 3.

International mouse phenotyping consortium Kdelr2 LOF phenotypes

Phenotype Zygosity Life stage p‐value
Abnormal embryo size htz, hmz E9.5, E18.5 0.00
Abnormal head size hmz E18.5 0.00
Abnormal heart looping htz E.9.5 0.00
Increased exploratory behavior htz early adult 1.17 × 10−7
Abnormal bone mineralization htz early adult 1.39 × 10−6
Abnormal facial morphology hmz E18.5 0.00
Preweaning lethality, incomplete penetrance hmz early adult 0.00
Abnormal head shape hmz E18.5 0.00
Abnormal bone structure htz early adult 1.75 × 10−7
Abnormal body wall morphology hmz E18.5 0.00

Abbreviations: hmz, homozygous; htz, heterozygous.