Inheritance and Variation of Traits: Genetic Mutations and Disease

Type Category
Instructional Materials
This resource, vetted by NSTA curators, is provided to teachers along with suggested modifications to make it more in line with the vision of the NGSS. While not considered to be “fully aligned,” the resources and expert recommendations provide teachers with concrete examples and expert guidance using the EQuIP rubric to adapted existing resources. Read more here.



This resource is designed as a supporting resource for the HHMI 2013 Holiday Lecture on Science entitled, Medicine in the Genomic Era.  The interactive animation illustrates how two different cell lineages are formed during development and that mutations can occur in either. Supporting resources included the various lectures and stories included in the Medicine in the Genomic Era series as well as a static poster of the interactive animation (,

Intended Audience

Educational Level
  • High School
Access Restrictions

Free access - The right to view and/or download material without financial, registration, or excessive advertising barriers.

Performance Expectations

HS-LS3-2 Make and defend a claim based on evidence that inheritable genetic variations may result from: (1) new genetic combinations through meiosis, (2) viable errors occurring during replication, and/or (3) mutations caused by environmental factors.

Clarification Statement: Emphasis is on using data to support arguments for the way variation occurs.] [Assessment Boundary: Assessment does not include the phases of meiosis or the biochemical mechanism of specific steps in the process.

Assessment Boundary: Assessment does not include the phases of meiosis or the biochemical mechanism of specific steps in the process.

This resource appears to be designed to build towards this performance expectation, though the resource developer has not explicitly stated so.

Comments about Including the Performance Expectation
In this activity, students are presented with video simulations and textual information which are designed to help students identify the relationships between genetic mutations and diseases. As currently written, this resource is two dimensional (practices + core ideas). In order to ensure the core concepts related to this performance expectation are fully mastered, this resource will need to be a part of an extended learning sequence, and there needs to be explicit integration of the crosscutting concepts. The teacher might want to capture student questions that may be generated through some type of interactive technology or a question bank.

Science and Engineering Practices

This resource appears to be designed to build towards this science and engineering practice, though the resource developer has not explicitly stated so.

Comments about Including the Science and Engineering Practice
In this resource, students interact with the animated model in order to gather information about the cause and effect relationships between changes in the DNA sequence and mutations which will serve as evidence for a future claim. The model simulation provided cannot be individualized and components cannot be manipulated by the students. To further their mastery of this practice, students could generate their own models prior to utilizing the resource. They could then revise that model to describe the components, their interactions, and their mechanisms. Such an activity could also serve as a three-dimensional assessment opportunity.

Disciplinary Core Ideas

This resource is explicitly designed to build towards this disciplinary core idea.

Comments about Including the Disciplinary Core Idea
Students can use the interactive model and scientific material to further their understanding of this core idea. Teachers may want to capture students’ questions and ideas about inherited diseases before the lesson. Additionally, teachers may want to have students construct explanations using evidence they gather from this resource in order to assess students’ understandings. In order for students to have a rigorous depth of understanding of this concept, this resource should be part of an extended learning sequence.

Crosscutting Concepts

This resource appears to be designed to build towards this crosscutting concept, though the resource developer has not explicitly stated so.

Comments about Including the Crosscutting Concept
This resource is framed around students identifying the causal relationship between the structure of chromosomes and mutations. In order to ensure students are using the crosscutting concepts as a lens for understanding, teachers should be explicit with questioning or the development of tasks to ensure that the crosscutting concepts are explicitly addressed. For example, students can be asked “How can small changes to chromosomes affect the overall health of the organism? Having students develop explanations or defend a claim would be a way to ensure the crosscutting concepts are explicit while also serving as an authentic assessment. For more examples of question stems specific to the CCC, see this resource:

Resource Quality

  • Alignment to the Dimensions of the NGSS: This resource is structured to elicit students’ learning as they figure out the phenomena of disease and to make connections to the role that DNA and genetic variations in the expression of some diseases . As currently written, this resource is two-dimensional focusing on the core ideas and practices. When redesigning this resource to make it more three-dimensional, students’ use of the crosscutting concepts in their sensemaking of genetic variation and mutation should be more explicit. Additionally, teachers may want to make the phenomena more personal by using common examples (i.e. cystic fibrosis, Down’s Syndrome) within the larger school population as the focal phenomenon. * A special note: Teachers will want to be sensitive in using any personal examples

  • Instructional Supports: There are no instructional supports provided to the teacher for this particular component of this HHMI BioInteractive resource. However, this resource is related to the "Medicine in the Genomic Era" unit and teachers may find other components that do provide helpful instructional supports. Providing translations, graphic organizers, or picture supports are some ways that teachers can support students. Additionally, teachers should constantly strive to make the learning relevant to student’s home environments through the selection of phenomena.

  • Monitoring Student Progress: There are no suggestions for how to monitor student progress. Teachers should plan for opportunities for students to create artifacts which include elaborations (which may be written, oral, pictorial, and kinesthetic) of reasoning behind their answers, and show how students’ thinking has changed over time. One resource to assist with this is the following STEM Teaching Tools: ( to aid in redesign.

  • Quality of Technological Interactivity: The interactive features of this resource are both purposeful and directly related to the learning but does not provide an individualized learning experience.