Phenotype Image Detail

Image

Caption

(A-F) Alizarin red (bone) and alcian blue (cartilage) staining of newborn Six1^tm1Mair / Eya1^tm1Rilm/Eya1^tm1Rilm compound mutants reveal abnormal facial structures, including hypoplastic frontal nasal bones (FN, arrowhead), small jawbones (*) and ear bones as well as cleft palate (panel J). md, mandible; IE, inner ear; red, bone; blue, cartilage. (G-N) MF20 immunohistochemical staining (red) of skeletal muscle demonstrates hypoplastic branchiomeric skeletal muscles including the first arch derived mylohyoid (Myl), digastric (Dig) and second arch derived muscles of facial expression (F) of E17.5 mutants. In addition to the branchiomeric muscle defect, Six1 and Eya1 are also expressed in and required for tongue (T) muscle development (L and N). The extraocular muscles (EOM) were also hypoplastic, while masseter (Mas) muscle seemed to be less affected; Arrowhead, cleft palate; Blue, DAPI nuclear counter stain; Asterisk, hypoplastic digastricus and mylohyoid.

Copyright

This image is from Guo C, J Clin Invest 2011 Apr 1;121(4):1585-95 and is displayed with the permission of the American Society for Clinical Investigation who owns the Copyright. J:172023

Associated Alleles

Symbol	Name
Eya1^tm1Rilm	EYA transcriptional coactivator and phosphatase 1; targeted mutation 1, Richard Maas
Six1^tm1Mair	sine oculis-related homeobox 1; targeted mutation 1, Pascal Maire

Associated Genotypes

Allelic Composition	Genetic Background
Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Mair/Six1^tm1Mair	involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Eya1^tm1Rilm/Eya1^tm1Rilm Six1^tm1Mair/Six1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Eya1^tm1Rilm/Eya1^+ Six1^tm1Mair/Six1^tm1Mair	involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Six1^tm1Mair/Six1^tm1Mair	involves: 129S1/Sv * 129X1/SvJ * C57BL/6